Canonical Allele Identifier: CA16615816
Gene: SMAD4 HGNC NCBI

Linked Data

ClinVar Variation Id: 405502
ClinVar RCV Id: RCV002230333
dbSNP Id: rs1060500744
MyVariant Identifiers: chr18:g.48604707del (hg19) chr18:g.51078337del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51078337del , CM000680.2:g.51078337del GRCh38
NC_000018.9:g.48604707del , CM000680.1:g.48604707del GRCh37
NC_000018.8:g.46858705del NCBI36
NG_013013.2:g.115298del , LRG_318:g.115298del

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.1529del ENSP00000465878.2:p.Gly510AspfsTer27
ENST00000589076.6:c.1529del ENSP00000466934.2:p.Gly510AspfsTer27
ENST00000589941.2:c.1529del ENSP00000465874.2:p.Gly510AspfsTer27
ENST00000590061.2:c.1529del ENSP00000464772.2:p.Gly510AspfsTer27
ENST00000593223.2:c.*1526del ENSP00000466118.2:n.*1526del
ENST00000611848.2:c.*181del ENSP00000478613.2:n.*181del
ENST00000684953.1:n.3544del
ENST00000685090.1:n.3459del
ENST00000685232.1:n.1750del
ENST00000688574.1:n.1637del
ENST00000691124.1:n.4490del
ENST00000342988.8:c.1529del MANE Select ENSP00000341551.3:p.Gly510AspfsTer27
ENST00000342988.7:c.1529del ENSP00000341551.3:p.Gly510AspfsTer27
ENST00000398417.6:c.1529del ENSP00000381452.1:p.Gly510AspfsTer27
ENST00000586253.1:n.251del
ENST00000588745.5:c.1241del ENSP00000464901.1:p.Gly414AspfsTer27
ENST00000591126.5:n.3530del
ENST00000592186.5:c.1176del ENSP00000468611.1:n.1176del
ENST00000611848.1:c.842del
NM_005359.5:c.1529del , LRG_318t1:c.1529del NP_005350.1:p.Gly510AspfsTer27
NM_005359.6:c.1529del MANE Select NP_005350.1:p.Gly510AspfsTer27
Search 100 bp 5'
Search 100 bp 3'