Canonical Allele Identifier: CA402463269
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 953545
ClinVar RCV Id: RCV001225851
dbSNP Id: rs1909898754

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51058345A>G , CM000680.2:g.51058345A>G GRCh38
NC_000018.9:g.48584715A>G , CM000680.1:g.48584715A>G GRCh37
NC_000018.8:g.46838713A>G NCBI36
NG_013013.2:g.95306A>G , LRG_318:g.95306A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.793A>G ENSP00000465878.2:p.Thr265Ala
ENST00000589076.6:c.793A>G ENSP00000466934.2:p.Thr265Ala
ENST00000589941.2:c.793A>G ENSP00000465874.2:p.Thr265Ala
ENST00000590061.2:c.793A>G ENSP00000464772.2:p.Thr265Ala
ENST00000593223.2:c.793A>G ENSP00000466118.2:p.Thr265Ala
ENST00000611848.2:c.793A>G ENSP00000478613.2:p.Thr265Ala
ENST00000684953.1:n.2165A>G
ENST00000685232.1:n.901A>G
ENST00000688307.1:n.156-1521A>G
ENST00000688574.1:n.901A>G
ENST00000688903.1:n.1007A>G
ENST00000690892.1:n.901A>G
ENST00000342988.8:c.793A>G MANE Select ENSP00000341551.3:p.Thr265Ala
ENST00000342988.7:c.793A>G ENSP00000341551.3:p.Thr265Ala
ENST00000398417.6:c.793A>G ENSP00000381452.1:p.Thr265Ala
ENST00000588745.5:c.667+3352A>G ENSP00000464901.1:n.667+3352A>G
ENST00000591126.5:n.2794A>G
ENST00000592186.5:c.793A>G ENSP00000468611.1:p.Thr265Ala
NM_005359.5:c.793A>G , LRG_318t1:c.793A>G NP_005350.1:p.Thr265Ala
NM_005359.6:c.793A>G MANE Select NP_005350.1:p.Thr265Ala