Canonical Allele Identifier: CA402466053

Gene: SMAD4

Linked Data

• dbSNP Id: rs2144479051
• COSMIC: COSM14115
• MyVariant Identifiers: chr18:g.48604747C>G (hg19) ; chr18:g.51078377C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078377C>G , CM000680.2:g.51078377C>G	GRCh38
NC_000018.9:g.48604747C>G , CM000680.1:g.48604747C>G	GRCh37
NC_000018.8:g.46858745C>G	NCBI36
NG_013013.2:g.115338C>G , LRG_318:g.115338C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1569C>G	ENSP00000465878.2:p.Cys523Trp
ENST00000589076.6:c.1569C>G	ENSP00000466934.2:p.Cys523Trp
ENST00000589941.2:c.1569C>G	ENSP00000465874.2:p.Cys523Trp
ENST00000590061.2:c.1569C>G	ENSP00000464772.2:p.Cys523Trp
ENST00000593223.2:c.*1566C>G	ENSP00000466118.2:n.*1566C>G
ENST00000611848.2:c.*221C>G	ENSP00000478613.2:n.*221C>G
ENST00000684953.1:n.3584C>G
ENST00000685090.1:n.3499C>G
ENST00000685232.1:n.1790C>G
ENST00000688574.1:n.1677C>G
ENST00000691124.1:n.4530C>G
ENST00000342988.8:c.1569C>G MANE Select	ENSP00000341551.3:p.Cys523Trp
ENST00000342988.7:c.1569C>G	ENSP00000341551.3:p.Cys523Trp
ENST00000398417.6:c.1569C>G	ENSP00000381452.1:p.Cys523Trp
ENST00000586253.1:n.291C>G
ENST00000588745.5:c.1281C>G	ENSP00000464901.1:p.Cys427Trp
ENST00000591126.5:n.3570C>G
ENST00000592186.5:c.1216C>G	ENSP00000468611.1:n.1216C>G
ENST00000611848.1:c.882C>G
NM_005359.5:c.1569C>G , LRG_318t1:c.1569C>G	NP_005350.1:p.Cys523Trp
NM_005359.6:c.1569C>G MANE Select	NP_005350.1:p.Cys523Trp