Canonical Allele Identifier: CA083347

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 294718
• ClinVar RCV Id: RCV000352167 ; RCV000994224 ; RCV001447393
• dbSNP Id: rs200538716
• ExAC: 1:201017714 C / T
• gnomAD v2: 1-201017714-C-T
• gnomAD v3: 1-201048586-C-T
• gnomAD v4: 1-201048586-C-T
• COSMIC: COSM5456234
• MyVariant Identifiers: chr1:g.201017714C>T (hg19) ; chr1:g.201048586C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201048586C>T , CM000663.2:g.201048586C>T	GRCh38
NC_000001.10:g.201017714C>T , CM000663.1:g.201017714C>T	GRCh37
NC_000001.9:g.199284337C>T	NCBI36
NG_009816.1:g.68981G>A
NG_009816.2:g.68981G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.4437G>A MANE Select	ENSP00000355192.3:p.Thr1479=
ENST00000679417.1:c.*3600G>A	ENSP00000506706.1:n.*3600G>A
ENST00000680051.1:n.1563G>A
ENST00000680059.1:c.*1955G>A	ENSP00000504944.1:n.*1955G>A
ENST00000681078.1:c.*212G>A	ENSP00000506645.1:n.*212G>A
ENST00000681190.1:c.*619G>A	ENSP00000506428.1:n.*619G>A
ENST00000681874.1:c.4377G>A	ENSP00000505162.1:p.Thr1459=
ENST00000362061.3:c.4437G>A	ENSP00000355192.3:p.Thr1479=
ENST00000367338.7:c.4380G>A	ENSP00000356307.3:p.Thr1460=
NM_000069.2:c.4437G>A	NP_000060.2:p.Thr1479=
XM_005245478.2:c.4380G>A	XP_005245535.1:p.Thr1460=
XM_005245478.3:c.4380G>A	XP_005245535.1:p.Thr1460=
NM_000069.3:c.4437G>A MANE Select	NP_000060.2:p.Thr1479=