Canonical Allele Identifier: CA078266

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 424926
• ClinVar RCV Id: RCV000487733 ; RCV000697677 ; RCV001096477 ; RCV003168987
• dbSNP Id: rs150590855
• ExAC: 1:201047133 C / T
• gnomAD v2: 1-201047133-C-T
• gnomAD v3: 1-201078005-C-T
• gnomAD v4: 1-201078005-C-T
• COSMIC: COSM1337781
• MyVariant Identifiers: chr1:g.201047133C>T (hg19) ; chr1:g.201078005C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201078005C>T , CM000663.2:g.201078005C>T	GRCh38
NC_000001.10:g.201047133C>T , CM000663.1:g.201047133C>T	GRCh37
NC_000001.9:g.199313756C>T	NCBI36
NG_009816.1:g.39562G>A
NG_009816.2:g.39562G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000362061.4:c.1493G>A MANE Select	ENSP00000355192.3:p.Arg498His
ENST00000679417.1:c.*656G>A	ENSP00000506706.1:n.*656G>A
ENST00000680059.1:c.1493G>A	ENSP00000504944.1:p.Arg498His
ENST00000681078.1:c.1493G>A	ENSP00000506645.1:p.Arg498His
ENST00000681190.1:c.1493G>A	ENSP00000506428.1:p.Arg498His
ENST00000681874.1:c.1493G>A	ENSP00000505162.1:p.Arg498His
ENST00000362061.3:c.1493G>A	ENSP00000355192.3:p.Arg498His
ENST00000367338.7:c.1493G>A	ENSP00000356307.3:p.Arg498His
NM_000069.2:c.1493G>A	NP_000060.2:p.Arg498His
XM_005245478.2:c.1493G>A	XP_005245535.1:p.Arg498His
XM_005245478.3:c.1493G>A	XP_005245535.1:p.Arg498His
NM_000069.3:c.1493G>A MANE Select	NP_000060.2:p.Arg498His