Canonical Allele Identifier: CA629926695
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 492460
dbSNP Id: rs1224777335

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51067008T>A , CM000680.2:g.51067008T>A GRCh38
NC_000018.9:g.48593378T>A , CM000680.1:g.48593378T>A GRCh37
NC_000018.8:g.46847376T>A NCBI36
NG_013013.2:g.103969T>A , LRG_318:g.103969T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.1140-11T>A ENSP00000465878.2:n.1140-11T>A
ENST00000589076.6:c.1140-11T>A ENSP00000466934.2:n.1140-11T>A
ENST00000589941.2:c.1140-11T>A ENSP00000465874.2:n.1140-11T>A
ENST00000590061.2:c.1140-11T>A ENSP00000464772.2:n.1140-11T>A
ENST00000593223.2:c.1140-11T>A ENSP00000466118.2:n.1140-11T>A
ENST00000611848.2:c.1140-11T>A ENSP00000478613.2:n.1140-11T>A
ENST00000684953.1:n.2512-11T>A
ENST00000685090.1:n.1591-11T>A
ENST00000685232.1:n.1248-11T>A
ENST00000688574.1:n.1248-11T>A
ENST00000691124.1:n.2622-11T>A
ENST00000342988.8:c.1140-11T>A MANE Select ENSP00000341551.3:n.1140-11T>A
ENST00000342988.7:c.1140-11T>A ENSP00000341551.3:n.1140-11T>A
ENST00000398417.6:c.1140-11T>A ENSP00000381452.1:n.1140-11T>A
ENST00000588745.5:c.852-11T>A ENSP00000464901.1:n.852-11T>A
ENST00000590499.1:n.187T>A
ENST00000591126.5:n.3141-11T>A
ENST00000592186.5:c.955+7092T>A ENSP00000468611.1:n.955+7092T>A
ENST00000611848.1:c.340-11T>A
NM_005359.5:c.1140-11T>A , LRG_318t1:c.1140-11T>A NP_005350.1:n.1140-11T>A
NM_005359.6:c.1140-11T>A MANE Select NP_005350.1:n.1140-11T>A