Canonical Allele Identifier: CA186263
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 183733
dbSNP Id: rs372316981

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51047066C>T , CM000680.2:g.51047066C>T GRCh38
NC_000018.9:g.48573436C>T , CM000680.1:g.48573436C>T GRCh37
NC_000018.8:g.46827434C>T NCBI36
NG_013013.2:g.84027C>T , LRG_318:g.84027C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000588860.6:c.20C>T ENSP00000465878.2:p.Thr7Met
ENST00000589076.6:c.20C>T ENSP00000466934.2:p.Thr7Met
ENST00000589941.2:c.20C>T ENSP00000465874.2:p.Thr7Met
ENST00000590061.2:c.20C>T ENSP00000464772.2:p.Thr7Met
ENST00000593223.2:c.20C>T ENSP00000466118.2:p.Thr7Met
ENST00000611848.2:c.20C>T ENSP00000478613.2:p.Thr7Met
ENST00000342988.8:c.20C>T MANE Select ENSP00000341551.3:p.Thr7Met
ENST00000342988.7:c.20C>T ENSP00000341551.3:p.Thr7Met
ENST00000398417.6:c.20C>T ENSP00000381452.1:p.Thr7Met
ENST00000588256.1:n.481C>T
ENST00000588745.5:c.20C>T ENSP00000464901.1:p.Thr7Met
ENST00000588860.5:c.20C>T ENSP00000465878.1:p.Thr7Met
ENST00000589076.5:c.20C>T ENSP00000466934.1:p.Thr7Met
ENST00000589941.1:c.20C>T ENSP00000465874.1:p.Thr7Met
ENST00000590061.1:c.20C>T ENSP00000464772.1:p.Thr7Met
ENST00000590722.2:c.*43C>T ENSP00000465737.1:n.*43C>T
ENST00000591914.5:c.20C>T ENSP00000466941.1:p.Thr7Met
ENST00000592186.5:c.20C>T ENSP00000468611.1:p.Thr7Met
ENST00000592911.5:n.28-1620C>T
NM_005359.5:c.20C>T , LRG_318t1:c.20C>T NP_005350.1:p.Thr7Met
NM_005359.6:c.20C>T MANE Select NP_005350.1:p.Thr7Met