Canonical Allele Identifier: CA259196

Gene: SMAD4

Linked Data

• dbSNP Id: rs377767341
• PubMed: PMID:16436638

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065449dup , CM000680.2:g.51065449dup	GRCh38
NC_000018.9:g.48591819dup , CM000680.1:g.48591819dup	GRCh37
NC_000018.8:g.46845817dup	NCBI36
NG_013013.2:g.102410dup , LRG_318:g.102410dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.982dup	ENSP00000465878.2:p.Tyr328LeufsTer3
ENST00000589076.6:c.982dup	ENSP00000466934.2:p.Tyr328LeufsTer3
ENST00000589941.2:c.982dup	ENSP00000465874.2:p.Tyr328LeufsTer3
ENST00000590061.2:c.982dup	ENSP00000464772.2:p.Tyr328LeufsTer3
ENST00000593223.2:c.982dup	ENSP00000466118.2:p.Tyr328LeufsTer3
ENST00000611848.2:c.982dup	ENSP00000478613.2:p.Tyr328LeufsTer3
ENST00000684953.1:n.2354dup
ENST00000685090.1:n.1433dup
ENST00000685232.1:n.1090dup
ENST00000688307.1:n.233dup
ENST00000688574.1:n.1090dup
ENST00000688903.1:n.1196dup
ENST00000691124.1:n.2464dup
ENST00000342988.8:c.982dup MANE Select	ENSP00000341551.3:p.Tyr328LeufsTer3
ENST00000342988.7:c.982dup	ENSP00000341551.3:p.Tyr328LeufsTer3
ENST00000398417.6:c.982dup	ENSP00000381452.1:p.Tyr328LeufsTer3
ENST00000588745.5:c.694dup	ENSP00000464901.1:p.Tyr232LeufsTer3
ENST00000591126.5:n.2983dup
ENST00000592186.5:c.955+5533dup	ENSP00000468611.1:n.955+5533dup
ENST00000611848.1:c.182dup
NM_005359.5:c.982dup , LRG_318t1:c.982dup	NP_005350.1:p.Tyr328LeufsTer3
NM_005359.6:c.982dup MANE Select	NP_005350.1:p.Tyr328LeufsTer3