Canonical Allele Identifier: CA2302981525
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51067112T= , CM000680.2:g.51067112T= GRCh38
NC_000018.9:g.48593482T= , CM000680.1:g.48593482T= GRCh37
NC_000018.8:g.46847480T= NCBI36
NG_013013.2:g.104073T= , LRG_318:g.104073T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.1233T= ENSP00000465878.2:p.Ser411=
ENST00000589076.6:c.1233T= ENSP00000466934.2:p.Ser411=
ENST00000589941.2:c.1233T= ENSP00000465874.2:p.Ser411=
ENST00000590061.2:c.1233T= ENSP00000464772.2:p.Ser411=
ENST00000593223.2:c.1233T= ENSP00000466118.2:p.Ser411=
ENST00000611848.2:c.1233T= ENSP00000478613.2:p.Ser411=
ENST00000684953.1:n.2605T=
ENST00000685090.1:n.1684T=
ENST00000685232.1:n.1341T=
ENST00000688574.1:n.1341T=
ENST00000691124.1:n.2715T=
ENST00000342988.8:c.1233T= MANE Select ENSP00000341551.3:p.Ser411=
ENST00000342988.7:c.1233T= ENSP00000341551.3:p.Ser411=
ENST00000398417.6:c.1233T= ENSP00000381452.1:p.Ser411=
ENST00000588745.5:c.945T= ENSP00000464901.1:p.Ser315=
ENST00000590499.1:n.291T=
ENST00000591126.5:n.3234T=
ENST00000592186.5:c.955+7196T= ENSP00000468611.1:n.955+7196T=
ENST00000611848.1:c.433T=
NM_005359.5:c.1233T= , LRG_318t1:c.1233T= NP_005350.1:p.Ser411=
NM_005359.6:c.1233T= MANE Select NP_005350.1:p.Ser411=