Canonical Allele Identifier: CA3153963

Gene: CASP3

Linked Data

• dbSNP Id: rs371145290
• ExAC: 4:185550607 G / A
• gnomAD v2: 4-185550607-G-A
• gnomAD v3: 4-184629453-G-A
• gnomAD v4: 4-184629453-G-A
• MyVariant Identifiers: chr4:g.185550607G>A (hg19) ; chr4:g.184629453G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184629453G>A , CM000666.2:g.184629453G>A	GRCh38
NC_000004.11:g.185550607G>A , CM000666.1:g.185550607G>A	GRCh37
NC_000004.10:g.185787601G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700100.1:c.653C>T	ENSP00000514797.1:p.Ser218Leu
ENST00000700101.1:c.653C>T	ENSP00000514798.1:p.Ser218Leu
ENST00000700102.1:n.2256C>T
ENST00000700103.1:n.3618C>T
ENST00000700104.1:c.*402C>T	ENSP00000514799.1:n.*402C>T
ENST00000308394.9:c.653C>T MANE Select	ENSP00000311032.4:p.Ser218Leu
ENST00000308394.8:c.653C>T	ENSP00000311032.4:p.Ser218Leu
ENST00000393585.6:c.532C>T	ENSP00000377210.2:p.Arg178Cys
ENST00000393588.8:c.532C>T	ENSP00000377213.4:p.Arg178Cys
ENST00000517513.5:c.532C>T	ENSP00000428372.1:p.Arg178Cys
ENST00000523916.5:c.653C>T	ENSP00000428929.1:p.Ser218Leu
ENST00000613118.4:c.*86C>T	ENSP00000478339.1:n.*86C>T
NM_004346.3:c.653C>T	NP_004337.2:p.Ser218Leu
NM_032991.2:c.653C>T	NP_116786.1:p.Ser218Leu
XM_011532301.1:c.653C>T	XP_011530603.1:p.Ser218Leu
NM_001354777.1:c.653C>T	NP_001341706.1:p.Ser218Leu
NM_001354779.1:c.575C>T	NP_001341708.1:p.Ser192Leu
NM_001354780.1:c.575C>T	NP_001341709.1:p.Ser192Leu
NM_001354781.1:c.532C>T	NP_001341710.1:p.Arg178Cys
NM_001354782.1:c.532C>T	NP_001341711.1:p.Arg178Cys
NM_001354783.1:c.559C>T	NP_001341712.1:p.Arg187Cys
NM_001354784.1:c.454C>T	NP_001341713.1:p.Arg152Cys
NM_004346.4:c.653C>T MANE Select	NP_004337.2:p.Ser218Leu
NM_001354777.2:c.653C>T	NP_001341706.1:p.Ser218Leu
NM_001354779.2:c.575C>T	NP_001341708.1:p.Ser192Leu
NM_001354780.2:c.575C>T	NP_001341709.1:p.Ser192Leu
NM_001354781.2:c.532C>T	NP_001341710.1:p.Arg178Cys
NM_001354782.2:c.532C>T	NP_001341711.1:p.Arg178Cys
NM_001354783.2:c.559C>T	NP_001341712.1:p.Arg187Cys
NM_001354784.2:c.454C>T	NP_001341713.1:p.Arg152Cys
NM_032991.3:c.653C>T	NP_116786.1:p.Ser218Leu