Canonical Allele Identifier: CA083652
Gene: CACNA1S HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.201112343T>C
GRCh37 chr1:g.201081471T>C
gnomAD v2:
1:201081471 T / C
gnomAD v3:
1:201112343 T / C
gnomAD v4:
chr1-201112343-T-C
Joint Max Group AF 0.00038916 (SAS)
Genomes Max Group AF 0.00048253 (NFE)
Exomes Max Group AF 0.00039054 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201112343T>C , CM000663.2:g.201112343T>C GRCh38
NC_000001.10:g.201081471T>C , CM000663.1:g.201081471T>C GRCh37
NC_000001.9:g.199348094T>C NCBI36
NG_009816.1:g.5224A>G
NG_009816.2:g.5224A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.-4A>G MANE Select ENSP00000355192.3:n.-4A>G
ENST00000679417.1:c.-4A>G ENSP00000506706.1:n.-4A>G
ENST00000680059.1:c.-4A>G ENSP00000504944.1:n.-4A>G
ENST00000681078.1:c.-4A>G ENSP00000506645.1:n.-4A>G
ENST00000681190.1:c.-4A>G ENSP00000506428.1:n.-4A>G
ENST00000681874.1:c.-4A>G ENSP00000505162.1:n.-4A>G
ENST00000362061.3:c.-4A>G ENSP00000355192.3:n.-4A>G
ENST00000367338.7:c.-4A>G ENSP00000356307.3:n.-4A>G
NM_000069.2:c.-4A>G NP_000060.2:n.-4A>G
XM_005245478.2:c.-4A>G XP_005245535.1:n.-4A>G
XM_005245478.3:c.-4A>G XP_005245535.1:n.-4A>G
NM_000069.3:c.-4A>G MANE Select NP_000060.2:n.-4A>G
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