Canonical Allele Identifier: CA10580984
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 230663
ClinVar RCV Id: RCV002310805
dbSNP Id: rs876658694
COSMIC: COSM14163

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51059892C>T , CM000680.2:g.51059892C>T GRCh38
NC_000018.9:g.48586262C>T , CM000680.1:g.48586262C>T GRCh37
NC_000018.8:g.46840260C>T NCBI36
NG_013013.2:g.96853C>T , LRG_318:g.96853C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.931C>T ENSP00000465878.2:p.Gln311Ter
ENST00000589076.6:c.931C>T ENSP00000466934.2:p.Gln311Ter
ENST00000589941.2:c.931C>T ENSP00000465874.2:p.Gln311Ter
ENST00000590061.2:c.931C>T ENSP00000464772.2:p.Gln311Ter
ENST00000593223.2:c.931C>T ENSP00000466118.2:p.Gln311Ter
ENST00000611848.2:c.931C>T ENSP00000478613.2:p.Gln311Ter
ENST00000684953.1:n.2303C>T
ENST00000685090.1:n.1382C>T
ENST00000685232.1:n.1039C>T
ENST00000688307.1:n.182C>T
ENST00000688574.1:n.1039C>T
ENST00000688903.1:n.1145C>T
ENST00000690892.1:n.1039C>T
ENST00000342988.8:c.931C>T MANE Select ENSP00000341551.3:p.Gln311Ter
ENST00000342988.7:c.931C>T ENSP00000341551.3:p.Gln311Ter
ENST00000398417.6:c.931C>T ENSP00000381452.1:p.Gln311Ter
ENST00000588745.5:c.667+4899C>T ENSP00000464901.1:n.667+4899C>T
ENST00000591126.5:n.2932C>T
ENST00000592186.5:c.931C>T ENSP00000468611.1:p.Gln311Ter
ENST00000611848.1:c.131C>T
NM_005359.5:c.931C>T , LRG_318t1:c.931C>T NP_005350.1:p.Gln311Ter
NM_005359.6:c.931C>T MANE Select NP_005350.1:p.Gln311Ter