Canonical Allele Identifier: CA359105051

Gene: CASP3

Linked Data

• gnomAD v4: 4-184629456-T-C
• MyVariant Identifiers: chr4:g.185550610T>C (hg19) ; chr4:g.184629456T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184629456T>C , CM000666.2:g.184629456T>C	GRCh38
NC_000004.11:g.185550610T>C , CM000666.1:g.185550610T>C	GRCh37
NC_000004.10:g.185787604T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700100.1:c.650A>G	ENSP00000514797.1:p.Gln217Arg
ENST00000700101.1:c.650A>G	ENSP00000514798.1:p.Gln217Arg
ENST00000700102.1:n.2253A>G
ENST00000700103.1:n.3615A>G
ENST00000700104.1:c.*399A>G	ENSP00000514799.1:n.*399A>G
ENST00000308394.9:c.650A>G MANE Select	ENSP00000311032.4:p.Gln217Arg
ENST00000308394.8:c.650A>G	ENSP00000311032.4:p.Gln217Arg
ENST00000393585.6:c.529A>G	ENSP00000377210.2:p.Ser177Gly
ENST00000393588.8:c.529A>G	ENSP00000377213.4:p.Ser177Gly
ENST00000517513.5:c.529A>G	ENSP00000428372.1:p.Ser177Gly
ENST00000523916.5:c.650A>G	ENSP00000428929.1:p.Gln217Arg
ENST00000613118.4:c.*83A>G	ENSP00000478339.1:n.*83A>G
NM_004346.3:c.650A>G	NP_004337.2:p.Gln217Arg
NM_032991.2:c.650A>G	NP_116786.1:p.Gln217Arg
XM_011532301.1:c.650A>G	XP_011530603.1:p.Gln217Arg
NM_001354777.1:c.650A>G	NP_001341706.1:p.Gln217Arg
NM_001354779.1:c.572A>G	NP_001341708.1:p.Gln191Arg
NM_001354780.1:c.572A>G	NP_001341709.1:p.Gln191Arg
NM_001354781.1:c.529A>G	NP_001341710.1:p.Ser177Gly
NM_001354782.1:c.529A>G	NP_001341711.1:p.Ser177Gly
NM_001354783.1:c.556A>G	NP_001341712.1:p.Ser186Gly
NM_001354784.1:c.451A>G	NP_001341713.1:p.Ser151Gly
NM_004346.4:c.650A>G MANE Select	NP_004337.2:p.Gln217Arg
NM_001354777.2:c.650A>G	NP_001341706.1:p.Gln217Arg
NM_001354779.2:c.572A>G	NP_001341708.1:p.Gln191Arg
NM_001354780.2:c.572A>G	NP_001341709.1:p.Gln191Arg
NM_001354781.2:c.529A>G	NP_001341710.1:p.Ser177Gly
NM_001354782.2:c.529A>G	NP_001341711.1:p.Ser177Gly
NM_001354783.2:c.556A>G	NP_001341712.1:p.Ser186Gly
NM_001354784.2:c.451A>G	NP_001341713.1:p.Ser151Gly
NM_032991.3:c.650A>G	NP_116786.1:p.Gln217Arg