Canonical Allele Identifier: CA083563

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 294713
• ClinVar RCV Id: RCV000351633 ; RCV000555819
• dbSNP Id: rs763069723
• ExAC: 1:201013501 C / T
• gnomAD v2: 1-201013501-C-T
• gnomAD v3: 1-201044373-C-T
• gnomAD v4: 1-201044373-C-T
• MyVariant Identifiers: chr1:g.201013501C>T (hg19) ; chr1:g.201044373C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201044373C>T , CM000663.2:g.201044373C>T	GRCh38
NC_000001.10:g.201013501C>T , CM000663.1:g.201013501C>T	GRCh37
NC_000001.9:g.199280124C>T	NCBI36
NG_009816.1:g.73194G>A
NG_009816.2:g.73194G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.4752G>A MANE Select	ENSP00000355192.3:p.Leu1584=
ENST00000679417.1:c.*3915G>A	ENSP00000506706.1:n.*3915G>A
ENST00000680051.1:n.1878G>A
ENST00000680059.1:c.*2270G>A	ENSP00000504944.1:n.*2270G>A
ENST00000681078.1:c.*527G>A	ENSP00000506645.1:n.*527G>A
ENST00000681190.1:c.*934G>A	ENSP00000506428.1:n.*934G>A
ENST00000681874.1:c.4692G>A	ENSP00000505162.1:p.Leu1564=
ENST00000362061.3:c.4752G>A	ENSP00000355192.3:p.Leu1584=
ENST00000367338.7:c.4695G>A	ENSP00000356307.3:p.Leu1565=
NM_000069.2:c.4752G>A	NP_000060.2:p.Leu1584=
XM_005245478.2:c.4695G>A	XP_005245535.1:p.Leu1565=
XM_005245478.3:c.4695G>A	XP_005245535.1:p.Leu1565=
NM_000069.3:c.4752G>A MANE Select	NP_000060.2:p.Leu1584=