Canonical Allele Identifier: CA528536752

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 474006
• ClinVar RCV Id: RCV000541007 ; RCV002483488
• dbSNP Id: rs1487979476
• gnomAD v2: 1-201058596-A-T
• gnomAD v3: 1-201089468-A-T
• gnomAD v4: 1-201089468-A-T
• MyVariant Identifiers: chr1:g.201058596A>T (hg19) ; chr1:g.201058596_201058597delinsTG (hg19) ; chr1:g.201089468A>T (hg38) ; chr1:g.201089468_201089469delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201089468A>T , CM000663.2:g.201089468A>T	GRCh38
NC_000001.10:g.201058596A>T , CM000663.1:g.201058596A>T	GRCh37
NC_000001.9:g.199325219A>T	NCBI36
NG_009816.1:g.28099T>A
NG_009816.2:g.28099T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.695-5T>A MANE Select	ENSP00000355192.3:n.695-5T>A
ENST00000679417.1:c.695-5T>A	ENSP00000506706.1:n.695-5T>A
ENST00000680059.1:c.695-5T>A	ENSP00000504944.1:n.695-5T>A
ENST00000681078.1:c.695-5T>A	ENSP00000506645.1:n.695-5T>A
ENST00000681190.1:c.695-5T>A	ENSP00000506428.1:n.695-5T>A
ENST00000681874.1:c.695-5T>A	ENSP00000505162.1:n.695-5T>A
ENST00000362061.3:c.695-5T>A	ENSP00000355192.3:n.695-5T>A
ENST00000367338.7:c.695-5T>A	ENSP00000356307.3:n.695-5T>A
NM_000069.2:c.695-5T>A	NP_000060.2:n.695-5T>A
XM_005245478.2:c.695-5T>A	XP_005245535.1:n.695-5T>A
XM_005245478.3:c.695-5T>A	XP_005245535.1:n.695-5T>A
NM_000069.3:c.695-5T>A MANE Select	NP_000060.2:n.695-5T>A