Canonical Allele Identifier: CA15303175

Gene: CASP3

Linked Data

• ClinVar Variation Id: 1255108
• ClinVar RCV Id: RCV001653217
• dbSNP Id: rs1049216
• gnomAD v2: 4-185550089-A-G
• gnomAD v3: 4-184628935-A-G
• gnomAD v4: 4-184628935-A-G
• MyVariant Identifiers: chr4:g.185550089A>G (hg19) ; chr4:g.184628935A>G (hg38)

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