Canonical Allele Identifier: CA2302987056
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51078642T= , CM000680.2:g.51078642T= GRCh38
NC_000018.9:g.48605012T= , CM000680.1:g.48605012T= GRCh37
NC_000018.8:g.46859010T= NCBI36
NG_013013.2:g.115603T= , LRG_318:g.115603T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.*175T= ENSP00000465878.2:n.*175T=
ENST00000589076.6:c.*175T= ENSP00000466934.2:n.*175T=
ENST00000589941.2:c.*175T= ENSP00000465874.2:n.*175T=
ENST00000590061.2:c.*175T= ENSP00000464772.2:n.*175T=
ENST00000593223.2:c.*1831T= ENSP00000466118.2:n.*1831T=
ENST00000611848.2:c.*486T= ENSP00000478613.2:n.*486T=
ENST00000684953.1:n.3849T=
ENST00000685090.1:n.3764T=
ENST00000685232.1:n.2055T=
ENST00000688574.1:n.1942T=
ENST00000691124.1:n.4795T=
ENST00000342988.8:c.*175T= MANE Select ENSP00000341551.3:n.*175T=
ENST00000342988.7:c.*175T= ENSP00000341551.3:n.*175T=
ENST00000398417.6:c.*175T= ENSP00000381452.1:n.*175T=
ENST00000586253.1:n.556T=
ENST00000591126.5:n.3835T=
ENST00000611848.1:c.1147T=
NM_005359.5:c.*175T= , LRG_318t1:c.*175T= NP_005350.1:n.*175T=
NM_005359.6:c.*175T= MANE Select NP_005350.1:n.*175T=