Canonical Allele Identifier: CA211890
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 41788
dbSNP Id: rs149755320

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51078381A>G , CM000680.2:g.51078381A>G GRCh38
NC_000018.9:g.48604751A>G , CM000680.1:g.48604751A>G GRCh37
NC_000018.8:g.46858749A>G NCBI36
NG_013013.2:g.115342A>G , LRG_318:g.115342A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.1573A>G ENSP00000465878.2:p.Ile525Val
ENST00000589076.6:c.1573A>G ENSP00000466934.2:p.Ile525Val
ENST00000589941.2:c.1573A>G ENSP00000465874.2:p.Ile525Val
ENST00000590061.2:c.1573A>G ENSP00000464772.2:p.Ile525Val
ENST00000593223.2:c.*1570A>G ENSP00000466118.2:n.*1570A>G
ENST00000611848.2:c.*225A>G ENSP00000478613.2:n.*225A>G
ENST00000684953.1:n.3588A>G
ENST00000685090.1:n.3503A>G
ENST00000685232.1:n.1794A>G
ENST00000688574.1:n.1681A>G
ENST00000691124.1:n.4534A>G
ENST00000342988.8:c.1573A>G MANE Select ENSP00000341551.3:p.Ile525Val
ENST00000342988.7:c.1573A>G ENSP00000341551.3:p.Ile525Val
ENST00000398417.6:c.1573A>G ENSP00000381452.1:p.Ile525Val
ENST00000586253.1:n.295A>G
ENST00000588745.5:c.1285A>G ENSP00000464901.1:p.Ile429Val
ENST00000591126.5:n.3574A>G
ENST00000592186.5:c.1220A>G ENSP00000468611.1:n.1220A>G
ENST00000611848.1:c.886A>G
NM_005359.5:c.1573A>G , LRG_318t1:c.1573A>G NP_005350.1:p.Ile525Val
NM_005359.6:c.1573A>G MANE Select NP_005350.1:p.Ile525Val