Canonical Allele Identifier: CA10608725

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 294703
• ClinVar RCV Id: RCV000291537
• dbSNP Id: rs577214090
• gnomAD v2: 1-201008872-C-T
• gnomAD v3: 1-201039744-C-T
• gnomAD v4: 1-201039744-C-T
• MyVariant Identifiers: chr1:g.201008872C>T (hg19) ; chr1:g.201039744C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201039744C>T , CM000663.2:g.201039744C>T	GRCh38
NC_000001.10:g.201008872C>T , CM000663.1:g.201008872C>T	GRCh37
NC_000001.9:g.199275495C>T	NCBI36
NG_009816.1:g.77823G>A
NG_009816.2:g.77823G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.*87G>A MANE Select	ENSP00000355192.3:n.*87G>A
ENST00000679417.1:c.*4872G>A	ENSP00000506706.1:n.*4872G>A
ENST00000680059.1:c.*3227G>A	ENSP00000504944.1:n.*3227G>A
ENST00000681078.1:c.*1484G>A	ENSP00000506645.1:n.*1484G>A
ENST00000681190.1:c.*1891G>A	ENSP00000506428.1:n.*1891G>A
ENST00000681874.1:c.*87G>A	ENSP00000505162.1:n.*87G>A
ENST00000362061.3:c.*87G>A	ENSP00000355192.3:n.*87G>A
ENST00000367338.7:c.*87G>A	ENSP00000356307.3:n.*87G>A
NM_000069.2:c.*87G>A	NP_000060.2:n.*87G>A
XM_005245478.2:c.*87G>A	XP_005245535.1:n.*87G>A
XR_241170.3:n.1465-2111C>T
XR_922405.1:n.2003-2111C>T
XR_922406.1:n.2281-2111C>T
XR_922407.1:n.2191-2111C>T
XR_922408.1:n.1369-2111C>T
XR_922409.1:n.1984-2111C>T
XR_922410.1:n.1391-2111C>T
XR_922411.1:n.1983-2111C>T
XR_922412.1:n.2197-2111C>T
XR_922413.1:n.2093-2111C>T
XR_922414.1:n.1300-2111C>T
XR_922415.1:n.1869-2111C>T
XR_922416.1:n.1309-2111C>T
XR_922417.1:n.1887-2111C>T
XR_922418.1:n.1821-2111C>T
XR_922419.1:n.1215-2111C>T
XR_922420.1:n.1687-2111C>T
XM_005245478.3:c.*87G>A	XP_005245535.1:n.*87G>A
XR_001738364.1:n.1652-2111C>T
XR_001738365.1:n.1562-2111C>T
XR_001738366.1:n.1355-2111C>T
XR_001738367.1:n.1568-2111C>T
XR_001738368.1:n.1464-2111C>T
XR_001738369.1:n.1240-2111C>T
XR_001738370.1:n.1192-2111C>T
XR_001738371.1:n.586-2111C>T
XR_001738372.1:n.1058-2111C>T
XR_922405.3:n.2113-2111C>T
XR_922407.3:n.2301-2111C>T
XR_922408.2:n.1374-2111C>T
XR_922410.2:n.1383-2111C>T
XR_922414.2:n.1292-2111C>T
XR_922416.2:n.1301-2111C>T
XR_922417.3:n.1997-2111C>T
NM_000069.3:c.*87G>A MANE Select	NP_000060.2:n.*87G>A