Canonical Allele Identifier: CA128097

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 24832
• ClinVar RCV Id: RCV002316201
• dbSNP Id: rs377767347
• COSMIC: COSM14122
• MyVariant Identifiers: chr18:g.48591919G>A (hg19) ; chr18:g.51065549G>A (hg38)
• PubMed: PMID:8898652 ; PMID:9679244 ; PMID:9811934 ; PMID:10479724 ; PMID:10775259 ; PMID:10797267 ; PMID:11274206 ; PMID:12821112 ; PMID:14715079 ; PMID:15031030 ; PMID:15235019 ; PMID:17873119 ; PMID:17994767 ; PMID:20101697 ; PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065549G>A , CM000680.2:g.51065549G>A	GRCh38
NC_000018.9:g.48591919G>A , CM000680.1:g.48591919G>A	GRCh37
NC_000018.8:g.46845917G>A	NCBI36
NG_013013.2:g.102510G>A , LRG_318:g.102510G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1082G>A	ENSP00000465878.2:p.Arg361His
ENST00000589076.6:c.1082G>A	ENSP00000466934.2:p.Arg361His
ENST00000589941.2:c.1082G>A	ENSP00000465874.2:p.Arg361His
ENST00000590061.2:c.1082G>A	ENSP00000464772.2:p.Arg361His
ENST00000593223.2:c.1082G>A	ENSP00000466118.2:p.Arg361His
ENST00000611848.2:c.1082G>A	ENSP00000478613.2:p.Arg361His
ENST00000684953.1:n.2454G>A
ENST00000685090.1:n.1533G>A
ENST00000685232.1:n.1190G>A
ENST00000688307.1:n.333G>A
ENST00000688574.1:n.1190G>A
ENST00000688903.1:n.1296G>A
ENST00000691124.1:n.2564G>A
ENST00000342988.8:c.1082G>A MANE Select	ENSP00000341551.3:p.Arg361His
ENST00000342988.7:c.1082G>A	ENSP00000341551.3:p.Arg361His
ENST00000398417.6:c.1082G>A	ENSP00000381452.1:p.Arg361His
ENST00000588745.5:c.794G>A	ENSP00000464901.1:p.Arg265His
ENST00000591126.5:n.3083G>A
ENST00000592186.5:c.955+5633G>A	ENSP00000468611.1:n.955+5633G>A
ENST00000611848.1:c.282G>A
NM_005359.5:c.1082G>A , LRG_318t1:c.1082G>A	NP_005350.1:p.Arg361His
NM_005359.6:c.1082G>A MANE Select	NP_005350.1:p.Arg361His