Canonical Allele Identifier: CA227451713
Gene: CASP12 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.104892390A>G
gnomAD v3:
11:104892390 A / G
gnomAD v4:
chr11-104892390-A-G
Joint Max Group AF 0.13374193 (AFR)
Genomes Max Group AF 0.13335181 (AFR)
Exomes Max Group AF 0.13213789 (AFR)
ClinVar RCV:
RCV000002255
ClinVar Variation:
929486
dbSNP:
497116
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.104892390A>G , CM000673.2:g.104892390A>G GRCh38
NG_028201.2:g.11281T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703420.1:c.373T>C ENSP00000515267.1:p.Ter125Arg
ENST00000375726.6:c.373T>C ENSP00000424038.1:p.Ter125Arg
ENST00000417998.5:c.468T>C ENSP00000424963.1:p.Cys156=
ENST00000422698.6:c.372+1T>C ENSP00000427128.2:n.372+1T>C
ENST00000433738.5:c.121T>C ENSP00000427437.1:p.Ter41Arg
ENST00000441710.5:c.373T>C ENSP00000423970.1:p.Ter125Arg
ENST00000446862.5:c.373T>C ENSP00000425652.1:p.Ter125Arg
ENST00000447913.5:c.121T>C ENSP00000426427.1:p.Ter41Arg
ENST00000448103.5:c.373T>C ENSP00000423899.1:p.Ter125Arg
ENST00000458137.5:c.468T>C ENSP00000421408.1:p.Cys156=
ENST00000494737.5:c.373T>C ENSP00000421815.1:p.Ter125Arg
ENST00000508062.1:c.121T>C ENSP00000426566.1:p.Ter41Arg
ENST00000613512.4:c.373T>C ENSP00000482745.1:p.Ter125Arg
NR_034061.2:n.629T>C
NR_034063.2:n.629T>C
NR_034064.2:n.629T>C
NR_034065.2:n.629T>C
NR_034066.2:n.377T>C
NR_034067.2:n.629T>C
NR_034068.2:n.377T>C
NR_034070.2:n.724T>C
NR_034071.2:n.724T>C
NR_034061.3:n.419T>C
NR_034063.3:n.419T>C
NR_034064.3:n.419T>C
NR_034065.3:n.419T>C
NR_034066.3:n.167T>C
NR_034067.3:n.419T>C
NR_034068.3:n.167T>C
NR_034070.3:n.514T>C
NR_034071.3:n.514T>C
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