Canonical Allele Identifier: CA422691707

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 511684
• ClinVar RCV Id: RCV000614872 ; RCV002529688 ; RCV003451420 ; RCV003451421 ; RCV003458473 ; RCV003451422
• dbSNP Id: rs1241905770
• gnomAD v2: 1-201052393-C-T
• gnomAD v3: 1-201083265-C-T
• gnomAD v4: 1-201083265-C-T
• MyVariant Identifiers: chr1:g.201052393C>T (hg19) ; chr1:g.201083265C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201083265C>T , CM000663.2:g.201083265C>T	GRCh38
NC_000001.10:g.201052393C>T , CM000663.1:g.201052393C>T	GRCh37
NC_000001.9:g.199319016C>T	NCBI36
NG_009816.1:g.34302G>A
NG_009816.2:g.34302G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1290G>A MANE Select	ENSP00000355192.3:p.Lys430=
ENST00000679417.1:c.*453G>A	ENSP00000506706.1:n.*453G>A
ENST00000680059.1:c.1290G>A	ENSP00000504944.1:p.Lys430=
ENST00000681078.1:c.1290G>A	ENSP00000506645.1:p.Lys430=
ENST00000681190.1:c.1290G>A	ENSP00000506428.1:p.Lys430=
ENST00000681874.1:c.1290G>A	ENSP00000505162.1:p.Lys430=
ENST00000362061.3:c.1290G>A	ENSP00000355192.3:p.Lys430=
ENST00000367338.7:c.1290G>A	ENSP00000356307.3:p.Lys430=
NM_000069.2:c.1290G>A	NP_000060.2:p.Lys430=
XM_005245478.2:c.1290G>A	XP_005245535.1:p.Lys430=
XM_005245478.3:c.1290G>A	XP_005245535.1:p.Lys430=
NM_000069.3:c.1290G>A MANE Select	NP_000060.2:p.Lys430=