Canonical Allele Identifier: CA16620709

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 422930
• ClinVar RCV Id: RCV001205567 ; RCV002311806
• dbSNP Id: rs1064796102
• gnomAD v4: 18-51067096-C-T
• COSMIC: COSM1389072
• MyVariant Identifiers: chr18:g.48593466C>T (hg19) ; chr18:g.51067096C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067096C>T , CM000680.2:g.51067096C>T	GRCh38
NC_000018.9:g.48593466C>T , CM000680.1:g.48593466C>T	GRCh37
NC_000018.8:g.46847464C>T	NCBI36
NG_013013.2:g.104057C>T , LRG_318:g.104057C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1217C>T	ENSP00000465878.2:p.Ala406Val
ENST00000589076.6:c.1217C>T	ENSP00000466934.2:p.Ala406Val
ENST00000589941.2:c.1217C>T	ENSP00000465874.2:p.Ala406Val
ENST00000590061.2:c.1217C>T	ENSP00000464772.2:p.Ala406Val
ENST00000593223.2:c.1217C>T	ENSP00000466118.2:p.Ala406Val
ENST00000611848.2:c.1217C>T	ENSP00000478613.2:p.Ala406Val
ENST00000684953.1:n.2589C>T
ENST00000685090.1:n.1668C>T
ENST00000685232.1:n.1325C>T
ENST00000688574.1:n.1325C>T
ENST00000691124.1:n.2699C>T
ENST00000342988.8:c.1217C>T MANE Select	ENSP00000341551.3:p.Ala406Val
ENST00000342988.7:c.1217C>T	ENSP00000341551.3:p.Ala406Val
ENST00000398417.6:c.1217C>T	ENSP00000381452.1:p.Ala406Val
ENST00000588745.5:c.929C>T	ENSP00000464901.1:p.Ala310Val
ENST00000590499.1:n.275C>T
ENST00000591126.5:n.3218C>T
ENST00000592186.5:c.955+7180C>T	ENSP00000468611.1:n.955+7180C>T
ENST00000611848.1:c.417C>T
NM_005359.5:c.1217C>T , LRG_318t1:c.1217C>T	NP_005350.1:p.Ala406Val
NM_005359.6:c.1217C>T MANE Select	NP_005350.1:p.Ala406Val