Canonical Allele Identifier: CA2302987032
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51078561C= , CM000680.2:g.51078561C= GRCh38
NC_000018.9:g.48604931C= , CM000680.1:g.48604931C= GRCh37
NC_000018.8:g.46858929C= NCBI36
NG_013013.2:g.115522C= , LRG_318:g.115522C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.*94C= ENSP00000465878.2:n.*94C=
ENST00000589076.6:c.*94C= ENSP00000466934.2:n.*94C=
ENST00000589941.2:c.*94C= ENSP00000465874.2:n.*94C=
ENST00000590061.2:c.*94C= ENSP00000464772.2:n.*94C=
ENST00000593223.2:c.*1750C= ENSP00000466118.2:n.*1750C=
ENST00000611848.2:c.*405C= ENSP00000478613.2:n.*405C=
ENST00000684953.1:n.3768C=
ENST00000685090.1:n.3683C=
ENST00000685232.1:n.1974C=
ENST00000688574.1:n.1861C=
ENST00000691124.1:n.4714C=
ENST00000342988.8:c.*94C= MANE Select ENSP00000341551.3:n.*94C=
ENST00000342988.7:c.*94C= ENSP00000341551.3:n.*94C=
ENST00000398417.6:c.*94C= ENSP00000381452.1:n.*94C=
ENST00000586253.1:n.475C=
ENST00000591126.5:n.3754C=
ENST00000611848.1:c.1066C=
NM_005359.5:c.*94C= , LRG_318t1:c.*94C= NP_005350.1:n.*94C=
NM_005359.6:c.*94C= MANE Select NP_005350.1:n.*94C=