Canonical Allele Identifier: CA259195
Gene: SMAD4 HGNC NCBI

Linked Data

dbSNP Id: rs377767340
MyVariant Identifiers: chr18:g.48591808del (hg19) chr18:g.51065438del (hg38)
PubMed: PMID:18178612
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.51065438del , CM000680.2:g.51065438del GRCh38
NC_000018.9:g.48591808del , CM000680.1:g.48591808del GRCh37
NC_000018.8:g.46845806del NCBI36
NG_013013.2:g.102399del , LRG_318:g.102399del

Transcript Alleles

HGVS Amino-acid change
ENST00000588860.6:c.971del ENSP00000465878.2:p.Cys324PhefsTer12
ENST00000589076.6:c.971del ENSP00000466934.2:p.Cys324PhefsTer12
ENST00000589941.2:c.971del ENSP00000465874.2:p.Cys324PhefsTer12
ENST00000590061.2:c.971del ENSP00000464772.2:p.Cys324PhefsTer12
ENST00000593223.2:c.971del ENSP00000466118.2:p.Cys324PhefsTer12
ENST00000611848.2:c.971del ENSP00000478613.2:p.Cys324PhefsTer12
ENST00000684953.1:n.2343del
ENST00000685090.1:n.1422del
ENST00000685232.1:n.1079del
ENST00000688307.1:n.222del
ENST00000688574.1:n.1079del
ENST00000688903.1:n.1185del
ENST00000691124.1:n.2453del
ENST00000342988.8:c.971del MANE Select ENSP00000341551.3:p.Cys324PhefsTer12
ENST00000342988.7:c.971del ENSP00000341551.3:p.Cys324PhefsTer12
ENST00000398417.6:c.971del ENSP00000381452.1:p.Cys324PhefsTer12
ENST00000588745.5:c.683del ENSP00000464901.1:p.Cys228PhefsTer12
ENST00000591126.5:n.2972del
ENST00000592186.5:c.955+5522del ENSP00000468611.1:n.955+5522del
ENST00000611848.1:c.171del
NM_005359.5:c.971del , LRG_318t1:c.971del NP_005350.1:p.Cys324PhefsTer12
NM_005359.6:c.971del MANE Select NP_005350.1:p.Cys324PhefsTer12
Search 100 bp 5'
Search 100 bp 3'