Canonical Allele Identifier: CA402466088

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 2856526
• ClinVar RCV Id: RCV003763335
• dbSNP Id: rs2144479189
• MyVariant Identifiers: chr18:g.48604761A>G (hg19) ; chr18:g.51078391A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078391A>G , CM000680.2:g.51078391A>G	GRCh38
NC_000018.9:g.48604761A>G , CM000680.1:g.48604761A>G	GRCh37
NC_000018.8:g.46858759A>G	NCBI36
NG_013013.2:g.115352A>G , LRG_318:g.115352A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1583A>G	ENSP00000465878.2:p.His528Arg
ENST00000589076.6:c.1583A>G	ENSP00000466934.2:p.His528Arg
ENST00000589941.2:c.1583A>G	ENSP00000465874.2:p.His528Arg
ENST00000590061.2:c.1583A>G	ENSP00000464772.2:p.His528Arg
ENST00000593223.2:c.*1580A>G	ENSP00000466118.2:n.*1580A>G
ENST00000611848.2:c.*235A>G	ENSP00000478613.2:n.*235A>G
ENST00000684953.1:n.3598A>G
ENST00000685090.1:n.3513A>G
ENST00000685232.1:n.1804A>G
ENST00000688574.1:n.1691A>G
ENST00000691124.1:n.4544A>G
ENST00000342988.8:c.1583A>G MANE Select	ENSP00000341551.3:p.His528Arg
ENST00000342988.7:c.1583A>G	ENSP00000341551.3:p.His528Arg
ENST00000398417.6:c.1583A>G	ENSP00000381452.1:p.His528Arg
ENST00000586253.1:n.305A>G
ENST00000588745.5:c.1295A>G	ENSP00000464901.1:p.His432Arg
ENST00000591126.5:n.3584A>G
ENST00000592186.5:c.1230A>G	ENSP00000468611.1:n.1230A>G
ENST00000611848.1:c.896A>G
NM_005359.5:c.1583A>G , LRG_318t1:c.1583A>G	NP_005350.1:p.His528Arg
NM_005359.6:c.1583A>G MANE Select	NP_005350.1:p.His528Arg