Canonical Allele Identifier: CA259223

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 24840
• ClinVar RCV Id: RCV001354075
• dbSNP Id: rs377767355
• COSMIC: COSM14159
• MyVariant Identifiers: chr18:g.48593397T>A (hg19) ; chr18:g.51067027T>A (hg38)
• PubMed: PMID:20101697

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067027T>A , CM000680.2:g.51067027T>A	GRCh38
NC_000018.9:g.48593397T>A , CM000680.1:g.48593397T>A	GRCh37
NC_000018.8:g.46847395T>A	NCBI36
NG_013013.2:g.103988T>A , LRG_318:g.103988T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1148T>A	ENSP00000465878.2:p.Ile383Lys
ENST00000589076.6:c.1148T>A	ENSP00000466934.2:p.Ile383Lys
ENST00000589941.2:c.1148T>A	ENSP00000465874.2:p.Ile383Lys
ENST00000590061.2:c.1148T>A	ENSP00000464772.2:p.Ile383Lys
ENST00000593223.2:c.1148T>A	ENSP00000466118.2:p.Ile383Lys
ENST00000611848.2:c.1148T>A	ENSP00000478613.2:p.Ile383Lys
ENST00000684953.1:n.2520T>A
ENST00000685090.1:n.1599T>A
ENST00000685232.1:n.1256T>A
ENST00000688574.1:n.1256T>A
ENST00000691124.1:n.2630T>A
ENST00000342988.8:c.1148T>A MANE Select	ENSP00000341551.3:p.Ile383Lys
ENST00000342988.7:c.1148T>A	ENSP00000341551.3:p.Ile383Lys
ENST00000398417.6:c.1148T>A	ENSP00000381452.1:p.Ile383Lys
ENST00000588745.5:c.860T>A	ENSP00000464901.1:p.Ile287Lys
ENST00000590499.1:n.206T>A
ENST00000591126.5:n.3149T>A
ENST00000592186.5:c.955+7111T>A	ENSP00000468611.1:n.955+7111T>A
ENST00000611848.1:c.348T>A
NM_005359.5:c.1148T>A , LRG_318t1:c.1148T>A	NP_005350.1:p.Ile383Lys
NM_005359.6:c.1148T>A MANE Select	NP_005350.1:p.Ile383Lys