Canonical Allele Identifier: CA359105039

Gene: CASP3

Linked Data

• MyVariant Identifiers: chr4:g.185550605G>C (hg19) ; chr4:g.184629451G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184629451G>C , CM000666.2:g.184629451G>C	GRCh38
NC_000004.11:g.185550605G>C , CM000666.1:g.185550605G>C	GRCh37
NC_000004.10:g.185787599G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700100.1:c.655C>G	ENSP00000514797.1:p.Leu219Val
ENST00000700101.1:c.655C>G	ENSP00000514798.1:p.Leu219Val
ENST00000700102.1:n.2258C>G
ENST00000700103.1:n.3620C>G
ENST00000700104.1:c.*404C>G	ENSP00000514799.1:n.*404C>G
ENST00000308394.9:c.655C>G MANE Select	ENSP00000311032.4:p.Leu219Val
ENST00000308394.8:c.655C>G	ENSP00000311032.4:p.Leu219Val
ENST00000393585.6:c.534C>G	ENSP00000377210.2:p.Arg178=
ENST00000393588.8:c.534C>G	ENSP00000377213.4:p.Arg178=
ENST00000517513.5:c.534C>G	ENSP00000428372.1:p.Arg178=
ENST00000523916.5:c.655C>G	ENSP00000428929.1:p.Leu219Val
ENST00000613118.4:c.*88C>G	ENSP00000478339.1:n.*88C>G
NM_004346.3:c.655C>G	NP_004337.2:p.Leu219Val
NM_032991.2:c.655C>G	NP_116786.1:p.Leu219Val
XM_011532301.1:c.655C>G	XP_011530603.1:p.Leu219Val
NM_001354777.1:c.655C>G	NP_001341706.1:p.Leu219Val
NM_001354779.1:c.577C>G	NP_001341708.1:p.Leu193Val
NM_001354780.1:c.577C>G	NP_001341709.1:p.Leu193Val
NM_001354781.1:c.534C>G	NP_001341710.1:p.Arg178=
NM_001354782.1:c.534C>G	NP_001341711.1:p.Arg178=
NM_001354783.1:c.561C>G	NP_001341712.1:p.Arg187=
NM_001354784.1:c.456C>G	NP_001341713.1:p.Arg152=
NM_004346.4:c.655C>G MANE Select	NP_004337.2:p.Leu219Val
NM_001354777.2:c.655C>G	NP_001341706.1:p.Leu219Val
NM_001354779.2:c.577C>G	NP_001341708.1:p.Leu193Val
NM_001354780.2:c.577C>G	NP_001341709.1:p.Leu193Val
NM_001354781.2:c.534C>G	NP_001341710.1:p.Arg178=
NM_001354782.2:c.534C>G	NP_001341711.1:p.Arg178=
NM_001354783.2:c.561C>G	NP_001341712.1:p.Arg187=
NM_001354784.2:c.456C>G	NP_001341713.1:p.Arg152=
NM_032991.3:c.655C>G	NP_116786.1:p.Leu219Val