Canonical Allele Identifier: CA2672813590

Gene: CASP3

Linked Data

• dbSNP Id: rs2149997217
• gnomAD v4: 4-184649343-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184649343A>C , CM000666.2:g.184649343A>C	GRCh38
NC_000004.11:g.185570497A>C , CM000666.1:g.185570497A>C	GRCh37
NC_000004.10:g.185807491A>C	NCBI36
NG_051582.1:g.4731A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700101.1:c.-16+649T>G	ENSP00000514798.1:n.-16+649T>G
ENST00000700102.1:n.53+52T>G
ENST00000700103.1:n.53+52T>G
ENST00000700104.1:c.-16+52T>G	ENSP00000514799.1:n.-16+52T>G
ENST00000308394.9:c.-183+52T>G MANE Select	ENSP00000311032.4:n.-183+52T>G
ENST00000308394.8:c.-183+52T>G	ENSP00000311032.4:n.-183+52T>G
ENST00000393588.8:c.-16+52T>G	ENSP00000377213.4:n.-16+52T>G
ENST00000447121.2:c.-145+52T>G	ENSP00000407142.2:n.-145+52T>G
ENST00000517513.5:c.-183+52T>G	ENSP00000428372.1:n.-183+52T>G
ENST00000523916.5:c.-16+52T>G	ENSP00000428929.1:n.-16+52T>G
NM_004346.3:c.-183+52T>G	NP_004337.2:n.-183+52T>G
NM_032991.2:c.-16+52T>G	NP_116786.1:n.-16+52T>G
XM_011532301.1:c.-145+52T>G	XP_011530603.1:n.-145+52T>G
NM_001354777.1:c.-145+52T>G	NP_001341706.1:n.-145+52T>G
NM_001354779.1:c.-90+52T>G	NP_001341708.1:n.-90+52T>G
NM_001354780.1:c.-257+52T>G	NP_001341709.1:n.-257+52T>G
NM_001354781.1:c.-16+52T>G	NP_001341710.1:n.-16+52T>G
NM_001354782.1:c.-183+52T>G	NP_001341711.1:n.-183+52T>G
NM_001354783.1:c.-348+52T>G	NP_001341712.1:n.-348+52T>G
NM_001354784.1:c.-90+52T>G	NP_001341713.1:n.-90+52T>G
NM_004346.4:c.-183+52T>G MANE Select	NP_004337.2:n.-183+52T>G
NM_001354777.2:c.-145+52T>G	NP_001341706.1:n.-145+52T>G
NM_001354779.2:c.-90+52T>G	NP_001341708.1:n.-90+52T>G
NM_001354780.2:c.-257+52T>G	NP_001341709.1:n.-257+52T>G
NM_001354781.2:c.-16+52T>G	NP_001341710.1:n.-16+52T>G
NM_001354782.2:c.-183+52T>G	NP_001341711.1:n.-183+52T>G
NM_001354783.2:c.-348+52T>G	NP_001341712.1:n.-348+52T>G
NM_001354784.2:c.-90+52T>G	NP_001341713.1:n.-90+52T>G
NM_032991.3:c.-16+52T>G	NP_116786.1:n.-16+52T>G