Canonical Allele Identifier: CA402464729

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1066208
• ClinVar RCV Id: RCV001377145
• dbSNP Id: rs2144451738
• COSMIC: COSM6476038
• MyVariant Identifiers: chr18:g.48593398A>G (hg19) ; chr18:g.51067028A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067028A>G , CM000680.2:g.51067028A>G	GRCh38
NC_000018.9:g.48593398A>G , CM000680.1:g.48593398A>G	GRCh37
NC_000018.8:g.46847396A>G	NCBI36
NG_013013.2:g.103989A>G , LRG_318:g.103989A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1149A>G	ENSP00000465878.2:p.Ile383Met
ENST00000589076.6:c.1149A>G	ENSP00000466934.2:p.Ile383Met
ENST00000589941.2:c.1149A>G	ENSP00000465874.2:p.Ile383Met
ENST00000590061.2:c.1149A>G	ENSP00000464772.2:p.Ile383Met
ENST00000593223.2:c.1149A>G	ENSP00000466118.2:p.Ile383Met
ENST00000611848.2:c.1149A>G	ENSP00000478613.2:p.Ile383Met
ENST00000684953.1:n.2521A>G
ENST00000685090.1:n.1600A>G
ENST00000685232.1:n.1257A>G
ENST00000688574.1:n.1257A>G
ENST00000691124.1:n.2631A>G
ENST00000342988.8:c.1149A>G MANE Select	ENSP00000341551.3:p.Ile383Met
ENST00000342988.7:c.1149A>G	ENSP00000341551.3:p.Ile383Met
ENST00000398417.6:c.1149A>G	ENSP00000381452.1:p.Ile383Met
ENST00000588745.5:c.861A>G	ENSP00000464901.1:p.Ile287Met
ENST00000590499.1:n.207A>G
ENST00000591126.5:n.3150A>G
ENST00000592186.5:c.955+7112A>G	ENSP00000468611.1:n.955+7112A>G
ENST00000611848.1:c.349A>G
NM_005359.5:c.1149A>G , LRG_318t1:c.1149A>G	NP_005350.1:p.Ile383Met
NM_005359.6:c.1149A>G MANE Select	NP_005350.1:p.Ile383Met