CACNA1A gene homepage

General information
Gene symbol CACNA1A
Gene name calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Chromosome 19
Chromosomal band p13
Imprinted Not imprinted
Genomic reference LRG_7
Transcript reference NM_001127221.1, NM_023035.2
Exon/intron information NM_001127221.1 exon/intron table, NM_023035.2 exon/intron table
Associated with diseases EA-2, FHM-1, SCA-6
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) GVsharedLOVD, with Curator vacancy
Total number of public variants reported 830
Unique public DNA variants reported 370
Individuals with public variants 520
Hidden variants 63
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. The database was initiated by Paola Carrera and Stefania Battistini as part of the Familial Hemiplegic Migraine (FHM) Variation Databases and curated until July 2012.
Date created June 21, 2004
Date last updated June 24, 2020
Version CACNA1A:200624

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_001127221.1, NM_023035.2.
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
External URL Orphanet
HGNC 1388
Entrez Gene 773
PubMed articles CACNA1A
OMIM - Gene 601011
OMIM - Diseases EA-2 (ataxia, episodic, type 2 (EA-2))
FHM-1 (migraine, hemiplegic, familial, type 1 (FHM-1))
SCA-6 (ataxia, spinocerebellar, type 6 (SCA-6))
GeneCards CACNA1A
GeneTests CACNA1A

Active transcripts




NCBI ID     

NCBI Protein ID     

00024115 19 transcript variant 3 NM_001127221.1 NP_001120693.1 828
00025282 19 transcript variant 2 NM_023035.2 NP_075461.2 405

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2004-2020. 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 out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the 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.