Canonical Allele Identifier: CA078674

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 2930319
• ClinVar RCV Id: RCV003787677
• dbSNP Id: rs139860737
• ExAC: 1:201044635 C / A
• gnomAD v2: 1-201044635-C-A
• gnomAD v4: 1-201075507-C-A
• MyVariant Identifiers: chr1:g.201044635C>A (hg19) ; chr1:g.201075507C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075507C>A , CM000663.2:g.201075507C>A	GRCh38
NC_000001.10:g.201044635C>A , CM000663.1:g.201044635C>A	GRCh37
NC_000001.9:g.199311258C>A	NCBI36
NG_009816.1:g.42060G>T
NG_009816.2:g.42060G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000362061.4:c.1936G>T MANE Select	ENSP00000355192.3:p.Val646Phe
ENST00000679417.1:c.*1099G>T	ENSP00000506706.1:n.*1099G>T
ENST00000680059.1:c.1936G>T	ENSP00000504944.1:p.Val646Phe
ENST00000681078.1:c.1936G>T	ENSP00000506645.1:p.Val646Phe
ENST00000681190.1:c.1936G>T	ENSP00000506428.1:p.Val646Phe
ENST00000681874.1:c.1936G>T	ENSP00000505162.1:p.Val646Phe
ENST00000362061.3:c.1936G>T	ENSP00000355192.3:p.Val646Phe
ENST00000367338.7:c.1936G>T	ENSP00000356307.3:p.Val646Phe
NM_000069.2:c.1936G>T	NP_000060.2:p.Val646Phe
XM_005245478.2:c.1936G>T	XP_005245535.1:p.Val646Phe
XM_005245478.3:c.1936G>T	XP_005245535.1:p.Val646Phe
NM_000069.3:c.1936G>T MANE Select	NP_000060.2:p.Val646Phe