Canonical Allele Identifier: CA2672811131

Gene: CASP3

Linked Data

• gnomAD v4: 4-184628879-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184628879C>A , CM000666.2:g.184628879C>A	GRCh38
NC_000004.11:g.185550033C>A , CM000666.1:g.185550033C>A	GRCh37
NC_000004.10:g.185787027C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700100.1:c.*393G>T	ENSP00000514797.1:n.*393G>T
ENST00000700101.1:c.*393G>T	ENSP00000514798.1:n.*393G>T
ENST00000700102.1:n.2830G>T
ENST00000700103.1:n.4192G>T
ENST00000700104.1:c.*976G>T	ENSP00000514799.1:n.*976G>T
ENST00000308394.9:c.*393G>T MANE Select	ENSP00000311032.4:n.*393G>T
ENST00000308394.8:c.*393G>T	ENSP00000311032.4:n.*393G>T
ENST00000393585.6:c.*557G>T	ENSP00000377210.2:n.*557G>T
ENST00000523916.5:c.*393G>T	ENSP00000428929.1:n.*393G>T
ENST00000613118.4:c.*660G>T	ENSP00000478339.1:n.*660G>T
NM_004346.3:c.*393G>T	NP_004337.2:n.*393G>T
NM_032991.2:c.*393G>T	NP_116786.1:n.*393G>T
XM_011532301.1:c.*393G>T	XP_011530603.1:n.*393G>T
NM_001354777.1:c.*393G>T	NP_001341706.1:n.*393G>T
NM_001354779.1:c.*393G>T	NP_001341708.1:n.*393G>T
NM_001354780.1:c.*393G>T	NP_001341709.1:n.*393G>T
NM_001354781.1:c.*557G>T	NP_001341710.1:n.*557G>T
NM_001354782.1:c.*557G>T	NP_001341711.1:n.*557G>T
NM_001354783.1:c.*557G>T	NP_001341712.1:n.*557G>T
NM_001354784.1:c.*557G>T	NP_001341713.1:n.*557G>T
NM_004346.4:c.*393G>T MANE Select	NP_004337.2:n.*393G>T
NM_001354777.2:c.*393G>T	NP_001341706.1:n.*393G>T
NM_001354779.2:c.*393G>T	NP_001341708.1:n.*393G>T
NM_001354780.2:c.*393G>T	NP_001341709.1:n.*393G>T
NM_001354781.2:c.*557G>T	NP_001341710.1:n.*557G>T
NM_001354782.2:c.*557G>T	NP_001341711.1:n.*557G>T
NM_001354783.2:c.*557G>T	NP_001341712.1:n.*557G>T
NM_001354784.2:c.*557G>T	NP_001341713.1:n.*557G>T
NM_032991.3:c.*393G>T	NP_116786.1:n.*393G>T