Canonical Allele Identifier: CA11711355
Gene: CASP3 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.184648576C>T , CM000666.2:g.184648576C>T GRCh38
NC_000004.11:g.185569730C>T , CM000666.1:g.185569730C>T GRCh37
NC_000004.10:g.185806724C>T NCBI36
NG_051582.1:g.3964C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700100.1:c.-127G>A ENSP00000514797.1:n.-127G>A
ENST00000700101.1:c.-16+1416G>A ENSP00000514798.1:n.-16+1416G>A
ENST00000700102.1:n.53+819G>A
ENST00000700103.1:n.53+819G>A
ENST00000700104.1:c.-16+819G>A ENSP00000514799.1:n.-16+819G>A
ENST00000308394.9:c.-127G>A MANE Select ENSP00000311032.4:n.-127G>A
ENST00000308394.8:c.-127G>A ENSP00000311032.4:n.-127G>A
ENST00000393585.6:c.-319G>A ENSP00000377210.2:n.-319G>A
ENST00000393588.8:c.-16+819G>A ENSP00000377213.4:n.-16+819G>A
ENST00000447121.2:c.-89G>A ENSP00000407142.2:n.-89G>A
ENST00000517513.5:c.-127G>A ENSP00000428372.1:n.-127G>A
ENST00000523916.5:c.-16+819G>A ENSP00000428929.1:n.-16+819G>A
ENST00000613118.4:c.-292G>A ENSP00000478339.1:n.-292G>A
NM_004346.3:c.-127G>A NP_004337.2:n.-127G>A
NM_032991.2:c.-16+819G>A NP_116786.1:n.-16+819G>A
XM_011532301.1:c.-89G>A XP_011530603.1:n.-89G>A
NM_001354777.1:c.-89G>A NP_001341706.1:n.-89G>A
NM_001354779.1:c.-90+819G>A NP_001341708.1:n.-90+819G>A
NM_001354780.1:c.-201G>A NP_001341709.1:n.-201G>A
NM_001354781.1:c.-16+819G>A NP_001341710.1:n.-16+819G>A
NM_001354782.1:c.-127G>A NP_001341711.1:n.-127G>A
NM_001354783.1:c.-292G>A NP_001341712.1:n.-292G>A
NM_001354784.1:c.-90+819G>A NP_001341713.1:n.-90+819G>A
NM_004346.4:c.-127G>A MANE Select NP_004337.2:n.-127G>A
NM_001354777.2:c.-89G>A NP_001341706.1:n.-89G>A
NM_001354779.2:c.-90+819G>A NP_001341708.1:n.-90+819G>A
NM_001354780.2:c.-201G>A NP_001341709.1:n.-201G>A
NM_001354781.2:c.-16+819G>A NP_001341710.1:n.-16+819G>A
NM_001354782.2:c.-127G>A NP_001341711.1:n.-127G>A
NM_001354783.2:c.-292G>A NP_001341712.1:n.-292G>A
NM_001354784.2:c.-90+819G>A NP_001341713.1:n.-90+819G>A
NM_032991.3:c.-16+819G>A NP_116786.1:n.-16+819G>A