Canonical Allele Identifier: CA2302980693
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51065585C= , CM000680.2:g.51065585C= GRCh38
NC_000018.9:g.48591955C= , CM000680.1:g.48591955C= GRCh37
NC_000018.8:g.46845953C= NCBI36
NG_013013.2:g.102546C= , LRG_318:g.102546C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.1118C= ENSP00000465878.2:p.Thr373=
ENST00000589076.6:c.1118C= ENSP00000466934.2:p.Thr373=
ENST00000589941.2:c.1118C= ENSP00000465874.2:p.Thr373=
ENST00000590061.2:c.1118C= ENSP00000464772.2:p.Thr373=
ENST00000593223.2:c.1118C= ENSP00000466118.2:p.Thr373=
ENST00000611848.2:c.1118C= ENSP00000478613.2:p.Thr373=
ENST00000684953.1:n.2490C=
ENST00000685090.1:n.1569C=
ENST00000685232.1:n.1226C=
ENST00000688307.1:n.369C=
ENST00000688574.1:n.1226C=
ENST00000688903.1:n.1332C=
ENST00000691124.1:n.2600C=
ENST00000342988.8:c.1118C= MANE Select ENSP00000341551.3:p.Thr373=
ENST00000342988.7:c.1118C= ENSP00000341551.3:p.Thr373=
ENST00000398417.6:c.1118C= ENSP00000381452.1:p.Thr373=
ENST00000588745.5:c.830C= ENSP00000464901.1:p.Thr277=
ENST00000591126.5:n.3119C=
ENST00000592186.5:c.955+5669C= ENSP00000468611.1:n.955+5669C=
ENST00000611848.1:c.318C=
NM_005359.5:c.1118C= , LRG_318t1:c.1118C= NP_005350.1:p.Thr373=
NM_005359.6:c.1118C= MANE Select NP_005350.1:p.Thr373=