Canonical Allele Identifier: CA2302987016
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51078529T= , CM000680.2:g.51078529T= GRCh38
NC_000018.9:g.48604899T= , CM000680.1:g.48604899T= GRCh37
NC_000018.8:g.46858897T= NCBI36
NG_013013.2:g.115490T= , LRG_318:g.115490T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.*62T= ENSP00000465878.2:n.*62T=
ENST00000589076.6:c.*62T= ENSP00000466934.2:n.*62T=
ENST00000589941.2:c.*62T= ENSP00000465874.2:n.*62T=
ENST00000590061.2:c.*62T= ENSP00000464772.2:n.*62T=
ENST00000593223.2:c.*1718T= ENSP00000466118.2:n.*1718T=
ENST00000611848.2:c.*373T= ENSP00000478613.2:n.*373T=
ENST00000684953.1:n.3736T=
ENST00000685090.1:n.3651T=
ENST00000685232.1:n.1942T=
ENST00000688574.1:n.1829T=
ENST00000691124.1:n.4682T=
ENST00000342988.8:c.*62T= MANE Select ENSP00000341551.3:n.*62T=
ENST00000342988.7:c.*62T= ENSP00000341551.3:n.*62T=
ENST00000398417.6:c.*62T= ENSP00000381452.1:n.*62T=
ENST00000586253.1:n.443T=
ENST00000591126.5:n.3722T=
ENST00000611848.1:c.1034T=
NM_005359.5:c.*62T= , LRG_318t1:c.*62T= NP_005350.1:n.*62T=
NM_005359.6:c.*62T= MANE Select NP_005350.1:n.*62T=