Canonical Allele Identifier: CA402457347
Gene: SMAD4 HGNC NCBI

Linked Data

dbSNP Id: rs1909566748

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51047089G>C , CM000680.2:g.51047089G>C GRCh38
NC_000018.9:g.48573459G>C , CM000680.1:g.48573459G>C GRCh37
NC_000018.8:g.46827457G>C NCBI36
NG_013013.2:g.84050G>C , LRG_318:g.84050G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.43G>C ENSP00000465878.2:p.Ala15Pro
ENST00000589076.6:c.43G>C ENSP00000466934.2:p.Ala15Pro
ENST00000589941.2:c.43G>C ENSP00000465874.2:p.Ala15Pro
ENST00000590061.2:c.43G>C ENSP00000464772.2:p.Ala15Pro
ENST00000593223.2:c.43G>C ENSP00000466118.2:p.Ala15Pro
ENST00000611848.2:c.43G>C ENSP00000478613.2:p.Ala15Pro
ENST00000342988.8:c.43G>C MANE Select ENSP00000341551.3:p.Ala15Pro
ENST00000342988.7:c.43G>C ENSP00000341551.3:p.Ala15Pro
ENST00000398417.6:c.43G>C ENSP00000381452.1:p.Ala15Pro
ENST00000588256.1:n.504G>C
ENST00000588745.5:c.43G>C ENSP00000464901.1:p.Ala15Pro
ENST00000588860.5:c.43G>C ENSP00000465878.1:p.Ala15Pro
ENST00000589076.5:c.43G>C ENSP00000466934.1:p.Ala15Pro
ENST00000589941.1:c.43G>C ENSP00000465874.1:p.Ala15Pro
ENST00000590061.1:c.43G>C ENSP00000464772.1:p.Ala15Pro
ENST00000590722.2:c.*66G>C ENSP00000465737.1:n.*66G>C
ENST00000591914.5:c.43G>C ENSP00000466941.1:p.Ala15Pro
ENST00000592186.5:c.43G>C ENSP00000468611.1:p.Ala15Pro
ENST00000592911.5:n.28-1597G>C
NM_005359.5:c.43G>C , LRG_318t1:c.43G>C NP_005350.1:p.Ala15Pro
NM_005359.6:c.43G>C MANE Select NP_005350.1:p.Ala15Pro