Canonical Allele Identifier: CA402464841
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 847636
ClinVar RCV Id: RCV001051227
dbSNP Id: rs1910180767
COSMIC: COSM14132

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51067080T>C , CM000680.2:g.51067080T>C GRCh38
NC_000018.9:g.48593450T>C , CM000680.1:g.48593450T>C GRCh37
NC_000018.8:g.46847448T>C NCBI36
NG_013013.2:g.104041T>C , LRG_318:g.104041T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.1201T>C ENSP00000465878.2:p.Cys401Arg
ENST00000589076.6:c.1201T>C ENSP00000466934.2:p.Cys401Arg
ENST00000589941.2:c.1201T>C ENSP00000465874.2:p.Cys401Arg
ENST00000590061.2:c.1201T>C ENSP00000464772.2:p.Cys401Arg
ENST00000593223.2:c.1201T>C ENSP00000466118.2:p.Cys401Arg
ENST00000611848.2:c.1201T>C ENSP00000478613.2:p.Cys401Arg
ENST00000684953.1:n.2573T>C
ENST00000685090.1:n.1652T>C
ENST00000685232.1:n.1309T>C
ENST00000688574.1:n.1309T>C
ENST00000691124.1:n.2683T>C
ENST00000342988.8:c.1201T>C MANE Select ENSP00000341551.3:p.Cys401Arg
ENST00000342988.7:c.1201T>C ENSP00000341551.3:p.Cys401Arg
ENST00000398417.6:c.1201T>C ENSP00000381452.1:p.Cys401Arg
ENST00000588745.5:c.913T>C ENSP00000464901.1:p.Cys305Arg
ENST00000590499.1:n.259T>C
ENST00000591126.5:n.3202T>C
ENST00000592186.5:c.955+7164T>C ENSP00000468611.1:n.955+7164T>C
ENST00000611848.1:c.401T>C
NM_005359.5:c.1201T>C , LRG_318t1:c.1201T>C NP_005350.1:p.Cys401Arg
NM_005359.6:c.1201T>C MANE Select NP_005350.1:p.Cys401Arg