The CNGA1 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol CNGA1
Gene name cyclic nucleotide gated channel alpha 1
Chromosome 4
Chromosomal band p12
Imprinted Unknown
Genomic reference NG_009193.1
Transcript reference NM_000087.3, NM_001142564.1
Exon/intron information NM_001142564.1 exon/intron table
Associated with diseases RP49
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 270
Unique public DNA variants reported 119
Individuals with public variants 983
Hidden variants 14
Download all this gene's data Download all data
Notes MANE select NM_001379270.1
This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created July 06, 2012
Date last updated January 26, 2024
Version CNGA1:240126

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001142564.1.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/CNGA1
HGNC 2148
Entrez Gene 1259
PubMed articles CNGA1
OMIM - Gene 123825
OMIM - Diseases RP49 (retinitis pigmentosa, type 49 (RP49))
HGMD CNGA1
GeneCards CNGA1
GeneTests CNGA1
Orphanet CNGA1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025403 4 transcript variant 1 NM_001142564.1 NP_001136036.1 255
00005378 4 transcript variant 2 NM_000087.3 NP_000078.2 148


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.