Canonical Allele Identifier: CA359105001

Gene: CASP3

Linked Data

• MyVariant Identifiers: chr4:g.185550592A>G (hg19) ; chr4:g.184629438A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184629438A>G , CM000666.2:g.184629438A>G	GRCh38
NC_000004.11:g.185550592A>G , CM000666.1:g.185550592A>G	GRCh37
NC_000004.10:g.185787586A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700100.1:c.668T>C	ENSP00000514797.1:p.Leu223Pro
ENST00000700101.1:c.668T>C	ENSP00000514798.1:p.Leu223Pro
ENST00000700102.1:n.2271T>C
ENST00000700103.1:n.3633T>C
ENST00000700104.1:c.*417T>C	ENSP00000514799.1:n.*417T>C
ENST00000308394.9:c.668T>C MANE Select	ENSP00000311032.4:p.Leu223Pro
ENST00000308394.8:c.668T>C	ENSP00000311032.4:p.Leu223Pro
ENST00000393585.6:c.547T>C	ENSP00000377210.2:p.Ter183Arg
ENST00000393588.8:c.547T>C	ENSP00000377213.4:p.Ter183Arg
ENST00000517513.5:c.547T>C	ENSP00000428372.1:p.Ter183Arg
ENST00000523916.5:c.668T>C	ENSP00000428929.1:p.Leu223Pro
ENST00000613118.4:c.*101T>C	ENSP00000478339.1:n.*101T>C
NM_004346.3:c.668T>C	NP_004337.2:p.Leu223Pro
NM_032991.2:c.668T>C	NP_116786.1:p.Leu223Pro
XM_011532301.1:c.668T>C	XP_011530603.1:p.Leu223Pro
NM_001354777.1:c.668T>C	NP_001341706.1:p.Leu223Pro
NM_001354779.1:c.590T>C	NP_001341708.1:p.Leu197Pro
NM_001354780.1:c.590T>C	NP_001341709.1:p.Leu197Pro
NM_001354781.1:c.547T>C	NP_001341710.1:p.Ter183Arg
NM_001354782.1:c.547T>C	NP_001341711.1:p.Ter183Arg
NM_001354783.1:c.574T>C	NP_001341712.1:p.Ter192Arg
NM_001354784.1:c.469T>C	NP_001341713.1:p.Ter157Arg
NM_004346.4:c.668T>C MANE Select	NP_004337.2:p.Leu223Pro
NM_001354777.2:c.668T>C	NP_001341706.1:p.Leu223Pro
NM_001354779.2:c.590T>C	NP_001341708.1:p.Leu197Pro
NM_001354780.2:c.590T>C	NP_001341709.1:p.Leu197Pro
NM_001354781.2:c.547T>C	NP_001341710.1:p.Ter183Arg
NM_001354782.2:c.547T>C	NP_001341711.1:p.Ter183Arg
NM_001354783.2:c.574T>C	NP_001341712.1:p.Ter192Arg
NM_001354784.2:c.469T>C	NP_001341713.1:p.Ter157Arg
NM_032991.3:c.668T>C	NP_116786.1:p.Leu223Pro