Canonical Allele Identifier: CA15303175
Gene: CASP3 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.184628935A>G
GRCh37 chr4:g.185550089A>G
gnomAD v2:
4:185550089 A / G
gnomAD v3:
4:184628935 A / G
gnomAD v4:
chr4-184628935-A-G
Joint Max Group AF 0.80194664 (EAS)
Genomes Max Group AF 0.80056248 (EAS)
Exomes Max Group AF 0.77935555 (EAS)
ClinVar RCV:
RCV001653217
ClinVar Variation:
1255108
dbSNP:
1049216
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.184628935A>G , CM000666.2:g.184628935A>G GRCh38
NC_000004.11:g.185550089A>G , CM000666.1:g.185550089A>G GRCh37
NC_000004.10:g.185787083A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000700100.1:c.*337T>C ENSP00000514797.1:n.*337T>C
ENST00000700101.1:c.*337T>C ENSP00000514798.1:n.*337T>C
ENST00000700102.1:n.2774T>C
ENST00000700103.1:n.4136T>C
ENST00000700104.1:c.*920T>C ENSP00000514799.1:n.*920T>C
ENST00000308394.9:c.*337T>C MANE Select ENSP00000311032.4:n.*337T>C
ENST00000308394.8:c.*337T>C ENSP00000311032.4:n.*337T>C
ENST00000393585.6:c.*501T>C ENSP00000377210.2:n.*501T>C
ENST00000523916.5:c.*337T>C ENSP00000428929.1:n.*337T>C
ENST00000613118.4:c.*604T>C ENSP00000478339.1:n.*604T>C
NM_004346.3:c.*337T>C NP_004337.2:n.*337T>C
NM_032991.2:c.*337T>C NP_116786.1:n.*337T>C
XM_011532301.1:c.*337T>C XP_011530603.1:n.*337T>C
NM_001354777.1:c.*337T>C NP_001341706.1:n.*337T>C
NM_001354779.1:c.*337T>C NP_001341708.1:n.*337T>C
NM_001354780.1:c.*337T>C NP_001341709.1:n.*337T>C
NM_001354781.1:c.*501T>C NP_001341710.1:n.*501T>C
NM_001354782.1:c.*501T>C NP_001341711.1:n.*501T>C
NM_001354783.1:c.*501T>C NP_001341712.1:n.*501T>C
NM_001354784.1:c.*501T>C NP_001341713.1:n.*501T>C
NM_004346.4:c.*337T>C MANE Select NP_004337.2:n.*337T>C
NM_001354777.2:c.*337T>C NP_001341706.1:n.*337T>C
NM_001354779.2:c.*337T>C NP_001341708.1:n.*337T>C
NM_001354780.2:c.*337T>C NP_001341709.1:n.*337T>C
NM_001354781.2:c.*501T>C NP_001341710.1:n.*501T>C
NM_001354782.2:c.*501T>C NP_001341711.1:n.*501T>C
NM_001354783.2:c.*501T>C NP_001341712.1:n.*501T>C
NM_001354784.2:c.*501T>C NP_001341713.1:n.*501T>C
NM_032991.3:c.*337T>C NP_116786.1:n.*337T>C
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