Canonical Allele Identifier: CA083926

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 420411
• ClinVar RCV Id: RCV000483307 ; RCV000528426 ; RCV002526575
• dbSNP Id: rs767571919
• ExAC: 1:201060843 C / T
• gnomAD v2: 1-201060843-C-T
• gnomAD v3: 1-201091715-C-T
• gnomAD v4: 1-201091715-C-T
• COSMIC: COSM4645091
• MyVariant Identifiers: chr1:g.201060843C>T (hg19) ; chr1:g.201091715C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201091715C>T , CM000663.2:g.201091715C>T	GRCh38
NC_000001.10:g.201060843C>T , CM000663.1:g.201060843C>T	GRCh37
NC_000001.9:g.199327466C>T	NCBI36
NG_009816.1:g.25852G>A
NG_009816.2:g.25852G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.619G>A MANE Select	ENSP00000355192.3:p.Val207Ile
ENST00000679417.1:c.619G>A	ENSP00000506706.1:p.Val207Ile
ENST00000680059.1:c.619G>A	ENSP00000504944.1:p.Val207Ile
ENST00000681078.1:c.619G>A	ENSP00000506645.1:p.Val207Ile
ENST00000681190.1:c.619G>A	ENSP00000506428.1:p.Val207Ile
ENST00000681874.1:c.619G>A	ENSP00000505162.1:p.Val207Ile
ENST00000362061.3:c.619G>A	ENSP00000355192.3:p.Val207Ile
ENST00000367338.7:c.619G>A	ENSP00000356307.3:p.Val207Ile
NM_000069.2:c.619G>A	NP_000060.2:p.Val207Ile
XM_005245478.2:c.619G>A	XP_005245535.1:p.Val207Ile
XM_005245478.3:c.619G>A	XP_005245535.1:p.Val207Ile
NM_000069.3:c.619G>A MANE Select	NP_000060.2:p.Val207Ile