Canonical Allele Identifier: CA004036
Gene: CACNA1S HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.201060816G>T
GRCh37 chr1:g.201029944G>T
Revel Score:
ENST00000362061 (MANE Select) 0.934
ENST00000367338 0.934
gnomAD v2:
1:201029944 G / T
gnomAD v3:
1:201060816 G / T
gnomAD v4:
chr1-201060816-G-T
Joint Max Group AF 0.00022774 (SAS)
Exomes Max Group AF 0.00023044 (SAS)
ClinVar RCV:
RCV000144372
RCV004017419
ClinVar Variation:
156288
dbSNP:
80338782
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201060816G>T , CM000663.2:g.201060816G>T GRCh38
NC_000001.10:g.201029944G>T , CM000663.1:g.201029944G>T GRCh37
NC_000001.9:g.199296567G>T NCBI36
NG_009816.1:g.56751C>A
NG_009816.2:g.56751C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.3256C>A MANE Select ENSP00000355192.3:p.Arg1086Ser
ENST00000679417.1:c.*2419C>A ENSP00000506706.1:n.*2419C>A
ENST00000680051.1:n.382C>A
ENST00000680059.1:c.*774C>A ENSP00000504944.1:n.*774C>A
ENST00000681078.1:c.3256C>A ENSP00000506645.1:p.Arg1086Ser
ENST00000681190.1:c.3256C>A ENSP00000506428.1:p.Arg1086Ser
ENST00000681874.1:c.3196C>A ENSP00000505162.1:p.Arg1066Ser
ENST00000362061.3:c.3256C>A ENSP00000355192.3:p.Arg1086Ser
ENST00000367338.7:c.3256C>A ENSP00000356307.3:p.Arg1086Ser
NM_000069.2:c.3256C>A NP_000060.2:p.Arg1086Ser
XM_005245478.2:c.3256C>A XP_005245535.1:p.Arg1086Ser
XM_005245478.3:c.3256C>A XP_005245535.1:p.Arg1086Ser
NM_000069.3:c.3256C>A MANE Select NP_000060.2:p.Arg1086Ser
Search 100 bp 5'
Search 100 bp 3'