Canonical Allele Identifier: CA2302986917
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51078366G= , CM000680.2:g.51078366G= GRCh38
NC_000018.9:g.48604736G= , CM000680.1:g.48604736G= GRCh37
NC_000018.8:g.46858734G= NCBI36
NG_013013.2:g.115327G= , LRG_318:g.115327G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.1558G= ENSP00000465878.2:p.Glu520=
ENST00000589076.6:c.1558G= ENSP00000466934.2:p.Glu520=
ENST00000589941.2:c.1558G= ENSP00000465874.2:p.Glu520=
ENST00000590061.2:c.1558G= ENSP00000464772.2:p.Glu520=
ENST00000593223.2:c.*1555G= ENSP00000466118.2:n.*1555G=
ENST00000611848.2:c.*210G= ENSP00000478613.2:n.*210G=
ENST00000684953.1:n.3573G=
ENST00000685090.1:n.3488G=
ENST00000685232.1:n.1779G=
ENST00000688574.1:n.1666G=
ENST00000691124.1:n.4519G=
ENST00000342988.8:c.1558G= MANE Select ENSP00000341551.3:p.Glu520=
ENST00000342988.7:c.1558G= ENSP00000341551.3:p.Glu520=
ENST00000398417.6:c.1558G= ENSP00000381452.1:p.Glu520=
ENST00000586253.1:n.280G=
ENST00000588745.5:c.1270G= ENSP00000464901.1:p.Glu424=
ENST00000591126.5:n.3559G=
ENST00000592186.5:c.1205G= ENSP00000468611.1:n.1205G=
ENST00000611848.1:c.871G=
NM_005359.5:c.1558G= , LRG_318t1:c.1558G= NP_005350.1:p.Glu520=
NM_005359.6:c.1558G= MANE Select NP_005350.1:p.Glu520=