Canonical Allele Identifier: CA16617039
Gene: CACNA1S HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.201066267G>A
GRCh37 chr1:g.201035395G>A
gnomAD v2:
1:201035395 G / A
gnomAD v3:
1:201066267 G / A
gnomAD v4:
chr1-201066267-G-A
Joint Max Group AF 0.00000365 (SAS)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000385 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201066267G>A , CM000663.2:g.201066267G>A GRCh38
NC_000001.10:g.201035395G>A , CM000663.1:g.201035395G>A GRCh37
NC_000001.9:g.199302018G>A NCBI36
NG_009816.1:g.51300C>T
NG_009816.2:g.51300C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.2707C>T MANE Select ENSP00000355192.3:p.Arg903Ter
ENST00000679417.1:c.*1870C>T ENSP00000506706.1:n.*1870C>T
ENST00000680059.1:c.*225C>T ENSP00000504944.1:n.*225C>T
ENST00000681078.1:c.2707C>T ENSP00000506645.1:p.Arg903Ter
ENST00000681190.1:c.2707C>T ENSP00000506428.1:p.Arg903Ter
ENST00000681874.1:c.2647C>T ENSP00000505162.1:p.Arg883Ter
ENST00000362061.3:c.2707C>T ENSP00000355192.3:p.Arg903Ter
ENST00000367338.7:c.2707C>T ENSP00000356307.3:p.Arg903Ter
NM_000069.2:c.2707C>T NP_000060.2:p.Arg903Ter
XM_005245478.2:c.2707C>T XP_005245535.1:p.Arg903Ter
XM_005245478.3:c.2707C>T XP_005245535.1:p.Arg903Ter
NM_000069.3:c.2707C>T MANE Select NP_000060.2:p.Arg903Ter
Search 100 bp 5'
Search 100 bp 3'