Canonical Allele Identifier: CA442736523

Gene: CASP3

Linked Data

• dbSNP Id: rs1436169774
• gnomAD v2: 4-185550567-T-C
• gnomAD v3: 4-184629413-T-C
• gnomAD v4: 4-184629413-T-C
• MyVariant Identifiers: chr4:g.185550567T>C (hg19) ; chr4:g.184629413T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184629413T>C , CM000666.2:g.184629413T>C	GRCh38
NC_000004.11:g.185550567T>C , CM000666.1:g.185550567T>C	GRCh37
NC_000004.10:g.185787561T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000700100.1:c.693A>G	ENSP00000514797.1:p.Glu231=
ENST00000700101.1:c.693A>G	ENSP00000514798.1:p.Glu231=
ENST00000700102.1:n.2296A>G
ENST00000700103.1:n.3658A>G
ENST00000700104.1:c.*442A>G	ENSP00000514799.1:n.*442A>G
ENST00000308394.9:c.693A>G MANE Select	ENSP00000311032.4:p.Glu231=
ENST00000308394.8:c.693A>G	ENSP00000311032.4:p.Glu231=
ENST00000393585.6:c.*23A>G	ENSP00000377210.2:n.*23A>G
ENST00000393588.8:c.*23A>G	ENSP00000377213.4:n.*23A>G
ENST00000517513.5:c.*23A>G	ENSP00000428372.1:n.*23A>G
ENST00000523916.5:c.693A>G	ENSP00000428929.1:p.Glu231=
ENST00000613118.4:c.*126A>G	ENSP00000478339.1:n.*126A>G
NM_004346.3:c.693A>G	NP_004337.2:p.Glu231=
NM_032991.2:c.693A>G	NP_116786.1:p.Glu231=
XM_011532301.1:c.693A>G	XP_011530603.1:p.Glu231=
NM_001354777.1:c.693A>G	NP_001341706.1:p.Glu231=
NM_001354779.1:c.615A>G	NP_001341708.1:p.Glu205=
NM_001354780.1:c.615A>G	NP_001341709.1:p.Glu205=
NM_001354781.1:c.*23A>G	NP_001341710.1:n.*23A>G
NM_001354782.1:c.*23A>G	NP_001341711.1:n.*23A>G
NM_001354783.1:c.*23A>G	NP_001341712.1:n.*23A>G
NM_001354784.1:c.*23A>G	NP_001341713.1:n.*23A>G
NM_004346.4:c.693A>G MANE Select	NP_004337.2:p.Glu231=
NM_001354777.2:c.693A>G	NP_001341706.1:p.Glu231=
NM_001354779.2:c.615A>G	NP_001341708.1:p.Glu205=
NM_001354780.2:c.615A>G	NP_001341709.1:p.Glu205=
NM_001354781.2:c.*23A>G	NP_001341710.1:n.*23A>G
NM_001354782.2:c.*23A>G	NP_001341711.1:n.*23A>G
NM_001354783.2:c.*23A>G	NP_001341712.1:n.*23A>G
NM_001354784.2:c.*23A>G	NP_001341713.1:n.*23A>G
NM_032991.3:c.693A>G	NP_116786.1:p.Glu231=