Canonical Allele Identifier: CA402463679
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 958384
ClinVar RCV Id: RCV001231542
dbSNP Id: rs774463256

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51059886G>A , CM000680.2:g.51059886G>A GRCh38
NC_000018.9:g.48586256G>A , CM000680.1:g.48586256G>A GRCh37
NC_000018.8:g.46840254G>A NCBI36
NG_013013.2:g.96847G>A , LRG_318:g.96847G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.925G>A ENSP00000465878.2:p.Ala309Thr
ENST00000589076.6:c.925G>A ENSP00000466934.2:p.Ala309Thr
ENST00000589941.2:c.925G>A ENSP00000465874.2:p.Ala309Thr
ENST00000590061.2:c.925G>A ENSP00000464772.2:p.Ala309Thr
ENST00000593223.2:c.925G>A ENSP00000466118.2:p.Ala309Thr
ENST00000611848.2:c.925G>A ENSP00000478613.2:p.Ala309Thr
ENST00000684953.1:n.2297G>A
ENST00000685090.1:n.1376G>A
ENST00000685232.1:n.1033G>A
ENST00000688307.1:n.176G>A
ENST00000688574.1:n.1033G>A
ENST00000688903.1:n.1139G>A
ENST00000690892.1:n.1033G>A
ENST00000342988.8:c.925G>A MANE Select ENSP00000341551.3:p.Ala309Thr
ENST00000342988.7:c.925G>A ENSP00000341551.3:p.Ala309Thr
ENST00000398417.6:c.925G>A ENSP00000381452.1:p.Ala309Thr
ENST00000588745.5:c.667+4893G>A ENSP00000464901.1:n.667+4893G>A
ENST00000591126.5:n.2926G>A
ENST00000592186.5:c.925G>A ENSP00000468611.1:p.Ala309Thr
ENST00000611848.1:c.125G>A
NM_005359.5:c.925G>A , LRG_318t1:c.925G>A NP_005350.1:p.Ala309Thr
NM_005359.6:c.925G>A MANE Select NP_005350.1:p.Ala309Thr