Canonical Allele Identifier: CA111910075

Gene: CASP3

Linked Data

• dbSNP Id: rs1018791013
• gnomAD v3: 4-184648877-C-G
• gnomAD v4: 4-184648877-C-G
• MyVariant Identifiers: chr4:g.185570031C>G (hg19) ; chr4:g.184648877C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184648877C>G , CM000666.2:g.184648877C>G	GRCh38
NC_000004.11:g.185570031C>G , CM000666.1:g.185570031C>G	GRCh37
NC_000004.10:g.185807025C>G	NCBI36
NG_051582.1:g.4265C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700100.1:c.-428G>C	ENSP00000514797.1:n.-428G>C
ENST00000700101.1:c.-16+1115G>C	ENSP00000514798.1:n.-16+1115G>C
ENST00000700102.1:n.53+518G>C
ENST00000700103.1:n.53+518G>C
ENST00000700104.1:c.-16+518G>C	ENSP00000514799.1:n.-16+518G>C
ENST00000308394.9:c.-182-246G>C MANE Select	ENSP00000311032.4:n.-182-246G>C
ENST00000308394.8:c.-182-246G>C	ENSP00000311032.4:n.-182-246G>C
ENST00000393588.8:c.-16+518G>C	ENSP00000377213.4:n.-16+518G>C
ENST00000447121.2:c.-144-246G>C	ENSP00000407142.2:n.-144-246G>C
ENST00000517513.5:c.-182-246G>C	ENSP00000428372.1:n.-182-246G>C
ENST00000523916.5:c.-16+518G>C	ENSP00000428929.1:n.-16+518G>C
NM_004346.3:c.-182-246G>C	NP_004337.2:n.-182-246G>C
NM_032991.2:c.-16+518G>C	NP_116786.1:n.-16+518G>C
XM_011532301.1:c.-144-246G>C	XP_011530603.1:n.-144-246G>C
NM_001354777.1:c.-144-246G>C	NP_001341706.1:n.-144-246G>C
NM_001354779.1:c.-90+518G>C	NP_001341708.1:n.-90+518G>C
NM_001354780.1:c.-256-246G>C	NP_001341709.1:n.-256-246G>C
NM_001354781.1:c.-16+518G>C	NP_001341710.1:n.-16+518G>C
NM_001354782.1:c.-182-246G>C	NP_001341711.1:n.-182-246G>C
NM_001354783.1:c.-347-246G>C	NP_001341712.1:n.-347-246G>C
NM_001354784.1:c.-90+518G>C	NP_001341713.1:n.-90+518G>C
NM_004346.4:c.-182-246G>C MANE Select	NP_004337.2:n.-182-246G>C
NM_001354777.2:c.-144-246G>C	NP_001341706.1:n.-144-246G>C
NM_001354779.2:c.-90+518G>C	NP_001341708.1:n.-90+518G>C
NM_001354780.2:c.-256-246G>C	NP_001341709.1:n.-256-246G>C
NM_001354781.2:c.-16+518G>C	NP_001341710.1:n.-16+518G>C
NM_001354782.2:c.-182-246G>C	NP_001341711.1:n.-182-246G>C
NM_001354783.2:c.-347-246G>C	NP_001341712.1:n.-347-246G>C
NM_001354784.2:c.-90+518G>C	NP_001341713.1:n.-90+518G>C
NM_032991.3:c.-16+518G>C	NP_116786.1:n.-16+518G>C