Canonical Allele Identifier: CA402464882
Gene: SMAD4 HGNC NCBI

Linked Data

dbSNP Id: rs147621330

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51067098G>A , CM000680.2:g.51067098G>A GRCh38
NC_000018.9:g.48593468G>A , CM000680.1:g.48593468G>A GRCh37
NC_000018.8:g.46847466G>A NCBI36
NG_013013.2:g.104059G>A , LRG_318:g.104059G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.1219G>A ENSP00000465878.2:p.Val407Ile
ENST00000589076.6:c.1219G>A ENSP00000466934.2:p.Val407Ile
ENST00000589941.2:c.1219G>A ENSP00000465874.2:p.Val407Ile
ENST00000590061.2:c.1219G>A ENSP00000464772.2:p.Val407Ile
ENST00000593223.2:c.1219G>A ENSP00000466118.2:p.Val407Ile
ENST00000611848.2:c.1219G>A ENSP00000478613.2:p.Val407Ile
ENST00000684953.1:n.2591G>A
ENST00000685090.1:n.1670G>A
ENST00000685232.1:n.1327G>A
ENST00000688574.1:n.1327G>A
ENST00000691124.1:n.2701G>A
ENST00000342988.8:c.1219G>A MANE Select ENSP00000341551.3:p.Val407Ile
ENST00000342988.7:c.1219G>A ENSP00000341551.3:p.Val407Ile
ENST00000398417.6:c.1219G>A ENSP00000381452.1:p.Val407Ile
ENST00000588745.5:c.931G>A ENSP00000464901.1:p.Val311Ile
ENST00000590499.1:n.277G>A
ENST00000591126.5:n.3220G>A
ENST00000592186.5:c.955+7182G>A ENSP00000468611.1:n.955+7182G>A
ENST00000611848.1:c.419G>A
NM_005359.5:c.1219G>A , LRG_318t1:c.1219G>A NP_005350.1:p.Val407Ile
NM_005359.6:c.1219G>A MANE Select NP_005350.1:p.Val407Ile