Canonical Allele Identifier: CA359105054

Gene: CASP3

Linked Data

• MyVariant Identifiers: chr4:g.185550611G>T (hg19) ; chr4:g.184629457G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184629457G>T , CM000666.2:g.184629457G>T	GRCh38
NC_000004.11:g.185550611G>T , CM000666.1:g.185550611G>T	GRCh37
NC_000004.10:g.185787605G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700100.1:c.649C>A	ENSP00000514797.1:p.Gln217Lys
ENST00000700101.1:c.649C>A	ENSP00000514798.1:p.Gln217Lys
ENST00000700102.1:n.2252C>A
ENST00000700103.1:n.3614C>A
ENST00000700104.1:c.*398C>A	ENSP00000514799.1:n.*398C>A
ENST00000308394.9:c.649C>A MANE Select	ENSP00000311032.4:p.Gln217Lys
ENST00000308394.8:c.649C>A	ENSP00000311032.4:p.Gln217Lys
ENST00000393585.6:c.528C>A	ENSP00000377210.2:p.Ser176=
ENST00000393588.8:c.528C>A	ENSP00000377213.4:p.Ser176=
ENST00000517513.5:c.528C>A	ENSP00000428372.1:p.Ser176=
ENST00000523916.5:c.649C>A	ENSP00000428929.1:p.Gln217Lys
ENST00000613118.4:c.*82C>A	ENSP00000478339.1:n.*82C>A
NM_004346.3:c.649C>A	NP_004337.2:p.Gln217Lys
NM_032991.2:c.649C>A	NP_116786.1:p.Gln217Lys
XM_011532301.1:c.649C>A	XP_011530603.1:p.Gln217Lys
NM_001354777.1:c.649C>A	NP_001341706.1:p.Gln217Lys
NM_001354779.1:c.571C>A	NP_001341708.1:p.Gln191Lys
NM_001354780.1:c.571C>A	NP_001341709.1:p.Gln191Lys
NM_001354781.1:c.528C>A	NP_001341710.1:p.Ser176=
NM_001354782.1:c.528C>A	NP_001341711.1:p.Ser176=
NM_001354783.1:c.555C>A	NP_001341712.1:p.Ser185=
NM_001354784.1:c.450C>A	NP_001341713.1:p.Ser150=
NM_004346.4:c.649C>A MANE Select	NP_004337.2:p.Gln217Lys
NM_001354777.2:c.649C>A	NP_001341706.1:p.Gln217Lys
NM_001354779.2:c.571C>A	NP_001341708.1:p.Gln191Lys
NM_001354780.2:c.571C>A	NP_001341709.1:p.Gln191Lys
NM_001354781.2:c.528C>A	NP_001341710.1:p.Ser176=
NM_001354782.2:c.528C>A	NP_001341711.1:p.Ser176=
NM_001354783.2:c.555C>A	NP_001341712.1:p.Ser185=
NM_001354784.2:c.450C>A	NP_001341713.1:p.Ser150=
NM_032991.3:c.649C>A	NP_116786.1:p.Gln217Lys