Canonical Allele Identifier: CA10580989

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 232877
• ClinVar RCV Id: RCV000213350 ; RCV001853605 ; RCV002311326
• dbSNP Id: rs876660045
• COSMIC: COSM14193
• MyVariant Identifiers: chr18:g.48604665G>A (hg19) ; chr18:g.51078295G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078295G>A , CM000680.2:g.51078295G>A	GRCh38
NC_000018.9:g.48604665G>A , CM000680.1:g.48604665G>A	GRCh37
NC_000018.8:g.46858663G>A	NCBI36
NG_013013.2:g.115256G>A , LRG_318:g.115256G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1487G>A	ENSP00000465878.2:p.Arg496His
ENST00000589076.6:c.1487G>A	ENSP00000466934.2:p.Arg496His
ENST00000589941.2:c.1487G>A	ENSP00000465874.2:p.Arg496His
ENST00000590061.2:c.1487G>A	ENSP00000464772.2:p.Arg496His
ENST00000593223.2:c.*1484G>A	ENSP00000466118.2:n.*1484G>A
ENST00000611848.2:c.*139G>A	ENSP00000478613.2:n.*139G>A
ENST00000684953.1:n.3502G>A
ENST00000685090.1:n.3417G>A
ENST00000685232.1:n.1708G>A
ENST00000688574.1:n.1595G>A
ENST00000691124.1:n.4448G>A
ENST00000342988.8:c.1487G>A MANE Select	ENSP00000341551.3:p.Arg496His
ENST00000342988.7:c.1487G>A	ENSP00000341551.3:p.Arg496His
ENST00000398417.6:c.1487G>A	ENSP00000381452.1:p.Arg496His
ENST00000586253.1:n.209G>A
ENST00000588745.5:c.1199G>A	ENSP00000464901.1:p.Arg400His
ENST00000591126.5:n.3488G>A
ENST00000592186.5:c.1134G>A	ENSP00000468611.1:n.1134G>A
ENST00000611848.1:c.800G>A
NM_005359.5:c.1487G>A , LRG_318t1:c.1487G>A	NP_005350.1:p.Arg496His
NM_005359.6:c.1487G>A MANE Select	NP_005350.1:p.Arg496His