Canonical Allele Identifier: CA359105060

Gene: CASP3

Linked Data

• MyVariant Identifiers: chr4:g.185550613A>G (hg19) ; chr4:g.184629459A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184629459A>G , CM000666.2:g.184629459A>G	GRCh38
NC_000004.11:g.185550613A>G , CM000666.1:g.185550613A>G	GRCh37
NC_000004.10:g.185787607A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700100.1:c.647T>C	ENSP00000514797.1:p.Ile216Thr
ENST00000700101.1:c.647T>C	ENSP00000514798.1:p.Ile216Thr
ENST00000700102.1:n.2250T>C
ENST00000700103.1:n.3612T>C
ENST00000700104.1:c.*396T>C	ENSP00000514799.1:n.*396T>C
ENST00000308394.9:c.647T>C MANE Select	ENSP00000311032.4:p.Ile216Thr
ENST00000308394.8:c.647T>C	ENSP00000311032.4:p.Ile216Thr
ENST00000393585.6:c.526T>C	ENSP00000377210.2:p.Ser176Pro
ENST00000393588.8:c.526T>C	ENSP00000377213.4:p.Ser176Pro
ENST00000517513.5:c.526T>C	ENSP00000428372.1:p.Ser176Pro
ENST00000523916.5:c.647T>C	ENSP00000428929.1:p.Ile216Thr
ENST00000613118.4:c.*80T>C	ENSP00000478339.1:n.*80T>C
NM_004346.3:c.647T>C	NP_004337.2:p.Ile216Thr
NM_032991.2:c.647T>C	NP_116786.1:p.Ile216Thr
XM_011532301.1:c.647T>C	XP_011530603.1:p.Ile216Thr
NM_001354777.1:c.647T>C	NP_001341706.1:p.Ile216Thr
NM_001354779.1:c.569T>C	NP_001341708.1:p.Ile190Thr
NM_001354780.1:c.569T>C	NP_001341709.1:p.Ile190Thr
NM_001354781.1:c.526T>C	NP_001341710.1:p.Ser176Pro
NM_001354782.1:c.526T>C	NP_001341711.1:p.Ser176Pro
NM_001354783.1:c.553T>C	NP_001341712.1:p.Ser185Pro
NM_001354784.1:c.448T>C	NP_001341713.1:p.Ser150Pro
NM_004346.4:c.647T>C MANE Select	NP_004337.2:p.Ile216Thr
NM_001354777.2:c.647T>C	NP_001341706.1:p.Ile216Thr
NM_001354779.2:c.569T>C	NP_001341708.1:p.Ile190Thr
NM_001354780.2:c.569T>C	NP_001341709.1:p.Ile190Thr
NM_001354781.2:c.526T>C	NP_001341710.1:p.Ser176Pro
NM_001354782.2:c.526T>C	NP_001341711.1:p.Ser176Pro
NM_001354783.2:c.553T>C	NP_001341712.1:p.Ser185Pro
NM_001354784.2:c.448T>C	NP_001341713.1:p.Ser150Pro
NM_032991.3:c.647T>C	NP_116786.1:p.Ile216Thr