Canonical Allele Identifier: CA2735215745
Gene: SMAD4 HGNC NCBI

Linked Data

dbSNP Id: rs2144480091

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51078491A>T , CM000680.2:g.51078491A>T GRCh38
NC_000018.9:g.48604861A>T , CM000680.1:g.48604861A>T GRCh37
NC_000018.8:g.46858859A>T NCBI36
NG_013013.2:g.115452A>T , LRG_318:g.115452A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.*24A>T ENSP00000465878.2:n.*24A>T
ENST00000589076.6:c.*24A>T ENSP00000466934.2:n.*24A>T
ENST00000589941.2:c.*24A>T ENSP00000465874.2:n.*24A>T
ENST00000590061.2:c.*24A>T ENSP00000464772.2:n.*24A>T
ENST00000593223.2:c.*1680A>T ENSP00000466118.2:n.*1680A>T
ENST00000611848.2:c.*335A>T ENSP00000478613.2:n.*335A>T
ENST00000684953.1:n.3698A>T
ENST00000685090.1:n.3613A>T
ENST00000685232.1:n.1904A>T
ENST00000688574.1:n.1791A>T
ENST00000691124.1:n.4644A>T
ENST00000342988.8:c.*24A>T MANE Select ENSP00000341551.3:n.*24A>T
ENST00000342988.7:c.*24A>T ENSP00000341551.3:n.*24A>T
ENST00000398417.6:c.*24A>T ENSP00000381452.1:n.*24A>T
ENST00000586253.1:n.405A>T
ENST00000591126.5:n.3684A>T
ENST00000611848.1:c.996A>T
NM_005359.5:c.*24A>T , LRG_318t1:c.*24A>T NP_005350.1:n.*24A>T
NM_005359.6:c.*24A>T MANE Select NP_005350.1:n.*24A>T