Canonical Allele Identifier: CA1321791

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 541033
• ClinVar RCV Id: RCV000651212 ; RCV002485470 ; RCV002530539
• dbSNP Id: rs756066219
• ExAC: 1:201012596 C / T
• gnomAD v2: 1-201012596-C-T
• gnomAD v3: 1-201043468-C-T
• gnomAD v4: 1-201043468-C-T
• COSMIC: COSM3400187
• MyVariant Identifiers: chr1:g.201012596C>T (hg19) ; chr1:g.201012596_201012597delinsTG (hg19) ; chr1:g.201043468C>T (hg38) ; chr1:g.201043468_201043469delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201043468C>T , CM000663.2:g.201043468C>T	GRCh38
NC_000001.10:g.201012596C>T , CM000663.1:g.201012596C>T	GRCh37
NC_000001.9:g.199279219C>T	NCBI36
NG_009816.1:g.74099G>A
NG_009816.2:g.74099G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.4861G>A MANE Select	ENSP00000355192.3:p.Val1621Ile
ENST00000679417.1:c.*4024G>A	ENSP00000506706.1:n.*4024G>A
ENST00000680051.1:n.1987G>A
ENST00000680059.1:c.*2379G>A	ENSP00000504944.1:n.*2379G>A
ENST00000681078.1:c.*636G>A	ENSP00000506645.1:n.*636G>A
ENST00000681190.1:c.*1043G>A	ENSP00000506428.1:n.*1043G>A
ENST00000681874.1:c.4801G>A	ENSP00000505162.1:p.Val1601Ile
ENST00000362061.3:c.4861G>A	ENSP00000355192.3:p.Val1621Ile
ENST00000367338.7:c.4804G>A	ENSP00000356307.3:p.Val1602Ile
NM_000069.2:c.4861G>A	NP_000060.2:p.Val1621Ile
XM_005245478.2:c.4804G>A	XP_005245535.1:p.Val1602Ile
XM_005245478.3:c.4804G>A	XP_005245535.1:p.Val1602Ile
NM_000069.3:c.4861G>A MANE Select	NP_000060.2:p.Val1621Ile