Canonical Allele Identifier: CA112458810

Gene: CASP3

Linked Data

• dbSNP Id: rs977632962
• gnomAD v3: 4-184629425-G-A
• gnomAD v4: 4-184629425-G-A
• MyVariant Identifiers: chr4:g.185550579G>A (hg19) ; chr4:g.184629425G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184629425G>A , CM000666.2:g.184629425G>A	GRCh38
NC_000004.11:g.185550579G>A , CM000666.1:g.185550579G>A	GRCh37
NC_000004.10:g.185787573G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700100.1:c.681C>T	ENSP00000514797.1:p.Ala227=
ENST00000700101.1:c.681C>T	ENSP00000514798.1:p.Ala227=
ENST00000700102.1:n.2284C>T
ENST00000700103.1:n.3646C>T
ENST00000700104.1:c.*430C>T	ENSP00000514799.1:n.*430C>T
ENST00000308394.9:c.681C>T MANE Select	ENSP00000311032.4:p.Ala227=
ENST00000308394.8:c.681C>T	ENSP00000311032.4:p.Ala227=
ENST00000393585.6:c.*11C>T	ENSP00000377210.2:n.*11C>T
ENST00000393588.8:c.*11C>T	ENSP00000377213.4:n.*11C>T
ENST00000517513.5:c.*11C>T	ENSP00000428372.1:n.*11C>T
ENST00000523916.5:c.681C>T	ENSP00000428929.1:p.Ala227=
ENST00000613118.4:c.*114C>T	ENSP00000478339.1:n.*114C>T
NM_004346.3:c.681C>T	NP_004337.2:p.Ala227=
NM_032991.2:c.681C>T	NP_116786.1:p.Ala227=
XM_011532301.1:c.681C>T	XP_011530603.1:p.Ala227=
NM_001354777.1:c.681C>T	NP_001341706.1:p.Ala227=
NM_001354779.1:c.603C>T	NP_001341708.1:p.Ala201=
NM_001354780.1:c.603C>T	NP_001341709.1:p.Ala201=
NM_001354781.1:c.*11C>T	NP_001341710.1:n.*11C>T
NM_001354782.1:c.*11C>T	NP_001341711.1:n.*11C>T
NM_001354783.1:c.*11C>T	NP_001341712.1:n.*11C>T
NM_001354784.1:c.*11C>T	NP_001341713.1:n.*11C>T
NM_004346.4:c.681C>T MANE Select	NP_004337.2:p.Ala227=
NM_001354777.2:c.681C>T	NP_001341706.1:p.Ala227=
NM_001354779.2:c.603C>T	NP_001341708.1:p.Ala201=
NM_001354780.2:c.603C>T	NP_001341709.1:p.Ala201=
NM_001354781.2:c.*11C>T	NP_001341710.1:n.*11C>T
NM_001354782.2:c.*11C>T	NP_001341711.1:n.*11C>T
NM_001354783.2:c.*11C>T	NP_001341712.1:n.*11C>T
NM_001354784.2:c.*11C>T	NP_001341713.1:n.*11C>T
NM_032991.3:c.681C>T	NP_116786.1:p.Ala227=