The CACNA1H gene homepage

General information
Gene symbol CACNA1H
Gene name calcium channel, voltage-dependent, T type, alpha 1H subunit
Chromosome 16
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_012647.1
Transcript reference NM_021098.2
Exon/intron information NM_021098.2 exon/intron table
Associated with diseases ECA6, HALD4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 341
Unique public DNA variants reported 263
Individuals with public variants 304
Hidden variants 30
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.
Date created May 03, 2013
Date last updated July 07, 2023
Version CACNA1H:230707

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_021098.2.
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
HGNC 1395
Entrez Gene 8912
PubMed articles CACNA1H
OMIM - Gene 607904
OMIM - Diseases ECA6 (epilepsy, childhood absence, type 6 (ECA-6))
HALD4 (hyperaldosteronism, familial, type IV (HALD41))
GeneCards CACNA1H
GeneTests CACNA1H
Orphanet CACNA1H

Active transcripts




NCBI ID     

NCBI Protein ID     

00023854 16 transcript variant 1 NM_021098.2 NP_066921.2 341

Copyright & disclaimer
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