Canonical Allele Identifier: CA078164

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 423703
• ClinVar RCV Id: RCV000482187 ; RCV001212349 ; RCV002526955 ; RCV002475950 ; RCV004003404
• dbSNP Id: rs372374492
• ExAC: 1:201052314 G / A
• gnomAD v2: 1-201052314-G-A
• gnomAD v3: 1-201083186-G-A
• gnomAD v4: 1-201083186-G-A
• MyVariant Identifiers: chr1:g.201052314G>A (hg19) ; chr1:g.201083186G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201083186G>A , CM000663.2:g.201083186G>A	GRCh38
NC_000001.10:g.201052314G>A , CM000663.1:g.201052314G>A	GRCh37
NC_000001.9:g.199318937G>A	NCBI36
NG_009816.1:g.34381C>T
NG_009816.2:g.34381C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1369C>T MANE Select	ENSP00000355192.3:p.Pro457Ser
ENST00000679417.1:c.*532C>T	ENSP00000506706.1:n.*532C>T
ENST00000680059.1:c.1369C>T	ENSP00000504944.1:p.Pro457Ser
ENST00000681078.1:c.1369C>T	ENSP00000506645.1:p.Pro457Ser
ENST00000681190.1:c.1369C>T	ENSP00000506428.1:p.Pro457Ser
ENST00000681874.1:c.1369C>T	ENSP00000505162.1:p.Pro457Ser
ENST00000362061.3:c.1369C>T	ENSP00000355192.3:p.Pro457Ser
ENST00000367338.7:c.1369C>T	ENSP00000356307.3:p.Pro457Ser
NM_000069.2:c.1369C>T	NP_000060.2:p.Pro457Ser
XM_005245478.2:c.1369C>T	XP_005245535.1:p.Pro457Ser
XM_005245478.3:c.1369C>T	XP_005245535.1:p.Pro457Ser
NM_000069.3:c.1369C>T MANE Select	NP_000060.2:p.Pro457Ser