Canonical Allele Identifier: CA004075

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 199686
• ClinVar RCV Id: RCV000210886 ; RCV000455562 ; RCV000651228 ; RCV000755673 ; RCV000996101 ; RCV003318365
• dbSNP Id: rs141204958
• ExAC: 1:201061111 G / A
• gnomAD v2: 1-201061111-G-A
• gnomAD v3: 1-201091983-G-A
• gnomAD v4: 1-201091983-G-A
• MyVariant Identifiers: chr1:g.201061111G>A (hg19) ; chr1:g.201091983G>A (hg38)
• PubMed: PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201091983G>A , CM000663.2:g.201091983G>A	GRCh38
NC_000001.10:g.201061111G>A , CM000663.1:g.201061111G>A	GRCh37
NC_000001.9:g.199327734G>A	NCBI36
NG_009816.1:g.25584C>T
NG_009816.2:g.25584C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000362061.4:c.530C>T MANE Select	ENSP00000355192.3:p.Ser177Leu
ENST00000679417.1:c.530C>T	ENSP00000506706.1:p.Ser177Leu
ENST00000680059.1:c.530C>T	ENSP00000504944.1:p.Ser177Leu
ENST00000681078.1:c.530C>T	ENSP00000506645.1:p.Ser177Leu
ENST00000681190.1:c.530C>T	ENSP00000506428.1:p.Ser177Leu
ENST00000681874.1:c.530C>T	ENSP00000505162.1:p.Ser177Leu
ENST00000362061.3:c.530C>T	ENSP00000355192.3:p.Ser177Leu
ENST00000367338.7:c.530C>T	ENSP00000356307.3:p.Ser177Leu
NM_000069.2:c.530C>T	NP_000060.2:p.Ser177Leu
XM_005245478.2:c.530C>T	XP_005245535.1:p.Ser177Leu
XM_005245478.3:c.530C>T	XP_005245535.1:p.Ser177Leu
NM_000069.3:c.530C>T MANE Select	NP_000060.2:p.Ser177Leu