Canonical Allele Identifier: CA193006

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 185807
• ClinVar RCV Id: RCV001446529 ; RCV002311024 ; RCV003316041 ; RCV003477615
• dbSNP Id: rs786202472
• gnomAD v4: 18-51067127-A-G
• MyVariant Identifiers: chr18:g.48593497A>G (hg19) ; chr18:g.51067127A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067127A>G , CM000680.2:g.51067127A>G	GRCh38
NC_000018.9:g.48593497A>G , CM000680.1:g.48593497A>G	GRCh37
NC_000018.8:g.46847495A>G	NCBI36
NG_013013.2:g.104088A>G , LRG_318:g.104088A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1248A>G	ENSP00000465878.2:p.Arg416=
ENST00000589076.6:c.1248A>G	ENSP00000466934.2:p.Arg416=
ENST00000589941.2:c.1248A>G	ENSP00000465874.2:p.Arg416=
ENST00000590061.2:c.1248A>G	ENSP00000464772.2:p.Arg416=
ENST00000593223.2:c.1248A>G	ENSP00000466118.2:p.Arg416=
ENST00000611848.2:c.1248A>G	ENSP00000478613.2:p.Arg416=
ENST00000684953.1:n.2620A>G
ENST00000685090.1:n.1699A>G
ENST00000685232.1:n.1356A>G
ENST00000688574.1:n.1356A>G
ENST00000691124.1:n.2730A>G
ENST00000342988.8:c.1248A>G MANE Select	ENSP00000341551.3:p.Arg416=
ENST00000342988.7:c.1248A>G	ENSP00000341551.3:p.Arg416=
ENST00000398417.6:c.1248A>G	ENSP00000381452.1:p.Arg416=
ENST00000588745.5:c.960A>G	ENSP00000464901.1:p.Arg320=
ENST00000590499.1:n.306A>G
ENST00000591126.5:n.3249A>G
ENST00000592186.5:c.955+7211A>G	ENSP00000468611.1:n.955+7211A>G
ENST00000593223.1:c.15A>G	ENSP00000466118.1:p.Arg5=
ENST00000611848.1:c.448A>G
NM_005359.5:c.1248A>G , LRG_318t1:c.1248A>G	NP_005350.1:p.Arg416=
NM_005359.6:c.1248A>G MANE Select	NP_005350.1:p.Arg416=