Canonical Allele Identifier: CA2302980896
Gene: SMAD4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51065899T= , CM000680.2:g.51065899T= GRCh38
NC_000018.9:g.48592269T= , CM000680.1:g.48592269T= GRCh37
NC_000018.8:g.46846267T= NCBI36
NG_013013.2:g.102860T= , LRG_318:g.102860T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.1139+293T= ENSP00000465878.2:n.1139+293T=
ENST00000589076.6:c.1139+293T= ENSP00000466934.2:n.1139+293T=
ENST00000589941.2:c.1139+293T= ENSP00000465874.2:n.1139+293T=
ENST00000590061.2:c.1139+293T= ENSP00000464772.2:n.1139+293T=
ENST00000593223.2:c.1139+293T= ENSP00000466118.2:n.1139+293T=
ENST00000611848.2:c.1139+293T= ENSP00000478613.2:n.1139+293T=
ENST00000684953.1:n.2511+293T=
ENST00000685090.1:n.1590+293T=
ENST00000685232.1:n.1247+293T=
ENST00000688307.1:n.683T=
ENST00000688574.1:n.1247+293T=
ENST00000688903.1:n.1646T=
ENST00000691124.1:n.2621+293T=
ENST00000342988.8:c.1139+293T= MANE Select ENSP00000341551.3:n.1139+293T=
ENST00000342988.7:c.1139+293T= ENSP00000341551.3:n.1139+293T=
ENST00000398417.6:c.1139+293T= ENSP00000381452.1:n.1139+293T=
ENST00000588745.5:c.851+293T= ENSP00000464901.1:n.851+293T=
ENST00000591126.5:n.3140+293T=
ENST00000592186.5:c.955+5983T= ENSP00000468611.1:n.955+5983T=
ENST00000611848.1:c.339+293T=
NM_005359.5:c.1139+293T= , LRG_318t1:c.1139+293T= NP_005350.1:n.1139+293T=
NM_005359.6:c.1139+293T= MANE Select NP_005350.1:n.1139+293T=