Canonical Allele Identifier: CA359104952

Gene: CASP3

Linked Data

• MyVariant Identifiers: chr4:g.185550571A>G (hg19) ; chr4:g.184629417A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184629417A>G , CM000666.2:g.184629417A>G	GRCh38
NC_000004.11:g.185550571A>G , CM000666.1:g.185550571A>G	GRCh37
NC_000004.10:g.185787565A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700100.1:c.689T>C	ENSP00000514797.1:p.Leu230Pro
ENST00000700101.1:c.689T>C	ENSP00000514798.1:p.Leu230Pro
ENST00000700102.1:n.2292T>C
ENST00000700103.1:n.3654T>C
ENST00000700104.1:c.*438T>C	ENSP00000514799.1:n.*438T>C
ENST00000308394.9:c.689T>C MANE Select	ENSP00000311032.4:p.Leu230Pro
ENST00000308394.8:c.689T>C	ENSP00000311032.4:p.Leu230Pro
ENST00000393585.6:c.*19T>C	ENSP00000377210.2:n.*19T>C
ENST00000393588.8:c.*19T>C	ENSP00000377213.4:n.*19T>C
ENST00000517513.5:c.*19T>C	ENSP00000428372.1:n.*19T>C
ENST00000523916.5:c.689T>C	ENSP00000428929.1:p.Leu230Pro
ENST00000613118.4:c.*122T>C	ENSP00000478339.1:n.*122T>C
NM_004346.3:c.689T>C	NP_004337.2:p.Leu230Pro
NM_032991.2:c.689T>C	NP_116786.1:p.Leu230Pro
XM_011532301.1:c.689T>C	XP_011530603.1:p.Leu230Pro
NM_001354777.1:c.689T>C	NP_001341706.1:p.Leu230Pro
NM_001354779.1:c.611T>C	NP_001341708.1:p.Leu204Pro
NM_001354780.1:c.611T>C	NP_001341709.1:p.Leu204Pro
NM_001354781.1:c.*19T>C	NP_001341710.1:n.*19T>C
NM_001354782.1:c.*19T>C	NP_001341711.1:n.*19T>C
NM_001354783.1:c.*19T>C	NP_001341712.1:n.*19T>C
NM_001354784.1:c.*19T>C	NP_001341713.1:n.*19T>C
NM_004346.4:c.689T>C MANE Select	NP_004337.2:p.Leu230Pro
NM_001354777.2:c.689T>C	NP_001341706.1:p.Leu230Pro
NM_001354779.2:c.611T>C	NP_001341708.1:p.Leu204Pro
NM_001354780.2:c.611T>C	NP_001341709.1:p.Leu204Pro
NM_001354781.2:c.*19T>C	NP_001341710.1:n.*19T>C
NM_001354782.2:c.*19T>C	NP_001341711.1:n.*19T>C
NM_001354783.2:c.*19T>C	NP_001341712.1:n.*19T>C
NM_001354784.2:c.*19T>C	NP_001341713.1:n.*19T>C
NM_032991.3:c.689T>C	NP_116786.1:p.Leu230Pro