Canonical Allele Identifier: CA083461
Gene: CACNA1S HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.201092053T>C
GRCh37 chr1:g.201061181T>C
Revel Score:
ENST00000362061 (MANE Select) 0.258
ENST00000367338 0.258
gnomAD v2:
1:201061181 T / C
gnomAD v3:
1:201092053 T / C
gnomAD v4:
chr1-201092053-T-C
Joint Max Group AF 0.00076306 (SAS)
Genomes Max Group AF 0.00016906 (SAS)
Exomes Max Group AF 0.00077364 (SAS)
ClinVar RCV:
RCV000526070
RCV004024262
ClinVar Variation:
473997
dbSNP:
761768992
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201092053T>C , CM000663.2:g.201092053T>C GRCh38
NC_000001.10:g.201061181T>C , CM000663.1:g.201061181T>C GRCh37
NC_000001.9:g.199327804T>C NCBI36
NG_009816.1:g.25514A>G
NG_009816.2:g.25514A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.460A>G MANE Select ENSP00000355192.3:p.Ser154Gly
ENST00000679417.1:c.460A>G ENSP00000506706.1:p.Ser154Gly
ENST00000680059.1:c.460A>G ENSP00000504944.1:p.Ser154Gly
ENST00000681078.1:c.460A>G ENSP00000506645.1:p.Ser154Gly
ENST00000681190.1:c.460A>G ENSP00000506428.1:p.Ser154Gly
ENST00000681874.1:c.460A>G ENSP00000505162.1:p.Ser154Gly
ENST00000362061.3:c.460A>G ENSP00000355192.3:p.Ser154Gly
ENST00000367338.7:c.460A>G ENSP00000356307.3:p.Ser154Gly
NM_000069.2:c.460A>G NP_000060.2:p.Ser154Gly
XM_005245478.2:c.460A>G XP_005245535.1:p.Ser154Gly
XM_005245478.3:c.460A>G XP_005245535.1:p.Ser154Gly
NM_000069.3:c.460A>G MANE Select NP_000060.2:p.Ser154Gly
Search 100 bp 5'
Search 100 bp 3'