Canonical Allele Identifier: CA2672811220

Gene: CASP3

Linked Data

• gnomAD v4: 4-184628984-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184628984A>G , CM000666.2:g.184628984A>G	GRCh38
NC_000004.11:g.185550138A>G , CM000666.1:g.185550138A>G	GRCh37
NC_000004.10:g.185787132A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700100.1:c.*288T>C	ENSP00000514797.1:n.*288T>C
ENST00000700101.1:c.*288T>C	ENSP00000514798.1:n.*288T>C
ENST00000700102.1:n.2725T>C
ENST00000700103.1:n.4087T>C
ENST00000700104.1:c.*871T>C	ENSP00000514799.1:n.*871T>C
ENST00000308394.9:c.*288T>C MANE Select	ENSP00000311032.4:n.*288T>C
ENST00000308394.8:c.*288T>C	ENSP00000311032.4:n.*288T>C
ENST00000393585.6:c.*452T>C	ENSP00000377210.2:n.*452T>C
ENST00000523916.5:c.*288T>C	ENSP00000428929.1:n.*288T>C
ENST00000613118.4:c.*555T>C	ENSP00000478339.1:n.*555T>C
NM_004346.3:c.*288T>C	NP_004337.2:n.*288T>C
NM_032991.2:c.*288T>C	NP_116786.1:n.*288T>C
XM_011532301.1:c.*288T>C	XP_011530603.1:n.*288T>C
NM_001354777.1:c.*288T>C	NP_001341706.1:n.*288T>C
NM_001354779.1:c.*288T>C	NP_001341708.1:n.*288T>C
NM_001354780.1:c.*288T>C	NP_001341709.1:n.*288T>C
NM_001354781.1:c.*452T>C	NP_001341710.1:n.*452T>C
NM_001354782.1:c.*452T>C	NP_001341711.1:n.*452T>C
NM_001354783.1:c.*452T>C	NP_001341712.1:n.*452T>C
NM_001354784.1:c.*452T>C	NP_001341713.1:n.*452T>C
NM_004346.4:c.*288T>C MANE Select	NP_004337.2:n.*288T>C
NM_001354777.2:c.*288T>C	NP_001341706.1:n.*288T>C
NM_001354779.2:c.*288T>C	NP_001341708.1:n.*288T>C
NM_001354780.2:c.*288T>C	NP_001341709.1:n.*288T>C
NM_001354781.2:c.*452T>C	NP_001341710.1:n.*452T>C
NM_001354782.2:c.*452T>C	NP_001341711.1:n.*452T>C
NM_001354783.2:c.*452T>C	NP_001341712.1:n.*452T>C
NM_001354784.2:c.*452T>C	NP_001341713.1:n.*452T>C
NM_032991.3:c.*288T>C	NP_116786.1:n.*288T>C