Canonical Allele Identifier: CA359104995

Gene: CASP3

Linked Data

• MyVariant Identifiers: chr4:g.185550590T>A (hg19) ; chr4:g.184629436T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184629436T>A , CM000666.2:g.184629436T>A	GRCh38
NC_000004.11:g.185550590T>A , CM000666.1:g.185550590T>A	GRCh37
NC_000004.10:g.185787584T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700100.1:c.670A>T	ENSP00000514797.1:p.Lys224Ter
ENST00000700101.1:c.670A>T	ENSP00000514798.1:p.Lys224Ter
ENST00000700102.1:n.2273A>T
ENST00000700103.1:n.3635A>T
ENST00000700104.1:c.*419A>T	ENSP00000514799.1:n.*419A>T
ENST00000308394.9:c.670A>T MANE Select	ENSP00000311032.4:p.Lys224Ter
ENST00000308394.8:c.670A>T	ENSP00000311032.4:p.Lys224Ter
ENST00000393585.6:c.549A>T	ENSP00000377210.2:p.Ter183Cys
ENST00000393588.8:c.549A>T	ENSP00000377213.4:p.Ter183Cys
ENST00000517513.5:c.549A>T	ENSP00000428372.1:p.Ter183Cys
ENST00000523916.5:c.670A>T	ENSP00000428929.1:p.Lys224Ter
ENST00000613118.4:c.*103A>T	ENSP00000478339.1:n.*103A>T
NM_004346.3:c.670A>T	NP_004337.2:p.Lys224Ter
NM_032991.2:c.670A>T	NP_116786.1:p.Lys224Ter
XM_011532301.1:c.670A>T	XP_011530603.1:p.Lys224Ter
NM_001354777.1:c.670A>T	NP_001341706.1:p.Lys224Ter
NM_001354779.1:c.592A>T	NP_001341708.1:p.Lys198Ter
NM_001354780.1:c.592A>T	NP_001341709.1:p.Lys198Ter
NM_001354781.1:c.549A>T	NP_001341710.1:p.Ter183Cys
NM_001354782.1:c.549A>T	NP_001341711.1:p.Ter183Cys
NM_001354783.1:c.576A>T	NP_001341712.1:p.Ter192Cys
NM_001354784.1:c.471A>T	NP_001341713.1:p.Ter157Cys
NM_004346.4:c.670A>T MANE Select	NP_004337.2:p.Lys224Ter
NM_001354777.2:c.670A>T	NP_001341706.1:p.Lys224Ter
NM_001354779.2:c.592A>T	NP_001341708.1:p.Lys198Ter
NM_001354780.2:c.592A>T	NP_001341709.1:p.Lys198Ter
NM_001354781.2:c.549A>T	NP_001341710.1:p.Ter183Cys
NM_001354782.2:c.549A>T	NP_001341711.1:p.Ter183Cys
NM_001354783.2:c.576A>T	NP_001341712.1:p.Ter192Cys
NM_001354784.2:c.471A>T	NP_001341713.1:p.Ter157Cys
NM_032991.3:c.670A>T	NP_116786.1:p.Lys224Ter