Canonical Allele Identifier: CA128103

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 8545
• ClinVar RCV Id: RCV000009074 ; RCV000431620 ; RCV000435285 ; RCV000444854 ; RCV000443856 ; RCV000422272 ; RCV000425012
• dbSNP Id: rs121912580
• COSMIC: COSM1150895
• MyVariant Identifiers: chr18:g.48593406G>A (hg19) ; chr18:g.51067036G>A (hg38)
• PubMed: PMID:6604412 ; PMID:12116240 ; PMID:15031030 ; PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067036G>A , CM000680.2:g.51067036G>A	GRCh38
NC_000018.9:g.48593406G>A , CM000680.1:g.48593406G>A	GRCh37
NC_000018.8:g.46847404G>A	NCBI36
NG_013013.2:g.103997G>A , LRG_318:g.103997G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1157G>A	ENSP00000465878.2:p.Gly386Asp
ENST00000589076.6:c.1157G>A	ENSP00000466934.2:p.Gly386Asp
ENST00000589941.2:c.1157G>A	ENSP00000465874.2:p.Gly386Asp
ENST00000590061.2:c.1157G>A	ENSP00000464772.2:p.Gly386Asp
ENST00000593223.2:c.1157G>A	ENSP00000466118.2:p.Gly386Asp
ENST00000611848.2:c.1157G>A	ENSP00000478613.2:p.Gly386Asp
ENST00000684953.1:n.2529G>A
ENST00000685090.1:n.1608G>A
ENST00000685232.1:n.1265G>A
ENST00000688574.1:n.1265G>A
ENST00000691124.1:n.2639G>A
ENST00000342988.8:c.1157G>A MANE Select	ENSP00000341551.3:p.Gly386Asp
ENST00000342988.7:c.1157G>A	ENSP00000341551.3:p.Gly386Asp
ENST00000398417.6:c.1157G>A	ENSP00000381452.1:p.Gly386Asp
ENST00000588745.5:c.869G>A	ENSP00000464901.1:p.Gly290Asp
ENST00000590499.1:n.215G>A
ENST00000591126.5:n.3158G>A
ENST00000592186.5:c.955+7120G>A	ENSP00000468611.1:n.955+7120G>A
ENST00000611848.1:c.357G>A
NM_005359.5:c.1157G>A , LRG_318t1:c.1157G>A	NP_005350.1:p.Gly386Asp
NM_005359.6:c.1157G>A MANE Select	NP_005350.1:p.Gly386Asp