Canonical Allele Identifier: CA359105018

Gene: CASP3

Linked Data

• MyVariant Identifiers: chr4:g.185550598G>C (hg19) ; chr4:g.184629444G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184629444G>C , CM000666.2:g.184629444G>C	GRCh38
NC_000004.11:g.185550598G>C , CM000666.1:g.185550598G>C	GRCh37
NC_000004.10:g.185787592G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000700100.1:c.662C>G	ENSP00000514797.1:p.Ala221Gly
ENST00000700101.1:c.662C>G	ENSP00000514798.1:p.Ala221Gly
ENST00000700102.1:n.2265C>G
ENST00000700103.1:n.3627C>G
ENST00000700104.1:c.*411C>G	ENSP00000514799.1:n.*411C>G
ENST00000308394.9:c.662C>G MANE Select	ENSP00000311032.4:p.Ala221Gly
ENST00000308394.8:c.662C>G	ENSP00000311032.4:p.Ala221Gly
ENST00000393585.6:c.541C>G	ENSP00000377210.2:p.Pro181Ala
ENST00000393588.8:c.541C>G	ENSP00000377213.4:p.Pro181Ala
ENST00000517513.5:c.541C>G	ENSP00000428372.1:p.Pro181Ala
ENST00000523916.5:c.662C>G	ENSP00000428929.1:p.Ala221Gly
ENST00000613118.4:c.*95C>G	ENSP00000478339.1:n.*95C>G
NM_004346.3:c.662C>G	NP_004337.2:p.Ala221Gly
NM_032991.2:c.662C>G	NP_116786.1:p.Ala221Gly
XM_011532301.1:c.662C>G	XP_011530603.1:p.Ala221Gly
NM_001354777.1:c.662C>G	NP_001341706.1:p.Ala221Gly
NM_001354779.1:c.584C>G	NP_001341708.1:p.Ala195Gly
NM_001354780.1:c.584C>G	NP_001341709.1:p.Ala195Gly
NM_001354781.1:c.541C>G	NP_001341710.1:p.Pro181Ala
NM_001354782.1:c.541C>G	NP_001341711.1:p.Pro181Ala
NM_001354783.1:c.568C>G	NP_001341712.1:p.Pro190Ala
NM_001354784.1:c.463C>G	NP_001341713.1:p.Pro155Ala
NM_004346.4:c.662C>G MANE Select	NP_004337.2:p.Ala221Gly
NM_001354777.2:c.662C>G	NP_001341706.1:p.Ala221Gly
NM_001354779.2:c.584C>G	NP_001341708.1:p.Ala195Gly
NM_001354780.2:c.584C>G	NP_001341709.1:p.Ala195Gly
NM_001354781.2:c.541C>G	NP_001341710.1:p.Pro181Ala
NM_001354782.2:c.541C>G	NP_001341711.1:p.Pro181Ala
NM_001354783.2:c.568C>G	NP_001341712.1:p.Pro190Ala
NM_001354784.2:c.463C>G	NP_001341713.1:p.Pro155Ala
NM_032991.3:c.662C>G	NP_116786.1:p.Ala221Gly