Canonical Allele Identifier: CA2302980686
Gene: SMAD4 HGNC NCBI

Linked Data

dbSNP Id: rs1599195223

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51065332T>A , CM000680.2:g.51065332T>A GRCh38
NC_000018.9:g.48591702T>A , CM000680.1:g.48591702T>A GRCh37
NC_000018.8:g.46845700T>A NCBI36
NG_013013.2:g.102293T>A , LRG_318:g.102293T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.956-91T>A ENSP00000465878.2:n.956-91T>A
ENST00000589076.6:c.956-91T>A ENSP00000466934.2:n.956-91T>A
ENST00000589941.2:c.956-91T>A ENSP00000465874.2:n.956-91T>A
ENST00000590061.2:c.956-91T>A ENSP00000464772.2:n.956-91T>A
ENST00000593223.2:c.956-91T>A ENSP00000466118.2:n.956-91T>A
ENST00000611848.2:c.956-91T>A ENSP00000478613.2:n.956-91T>A
ENST00000684953.1:n.2328-91T>A
ENST00000685090.1:n.1407-91T>A
ENST00000685232.1:n.1064-91T>A
ENST00000688307.1:n.207-91T>A
ENST00000688574.1:n.1064-91T>A
ENST00000688903.1:n.1170-91T>A
ENST00000691124.1:n.2347T>A
ENST00000342988.8:c.956-91T>A MANE Select ENSP00000341551.3:n.956-91T>A
ENST00000342988.7:c.956-91T>A ENSP00000341551.3:n.956-91T>A
ENST00000398417.6:c.956-91T>A ENSP00000381452.1:n.956-91T>A
ENST00000588745.5:c.668-91T>A ENSP00000464901.1:n.668-91T>A
ENST00000591126.5:n.2957-91T>A
ENST00000592186.5:c.955+5416T>A ENSP00000468611.1:n.955+5416T>A
ENST00000611848.1:c.156-91T>A
NM_005359.5:c.956-91T>A , LRG_318t1:c.956-91T>A NP_005350.1:n.956-91T>A
NM_005359.6:c.956-91T>A MANE Select NP_005350.1:n.956-91T>A