Canonical Allele Identifier: CA402460631

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 460555
• ClinVar RCV Id: RCV000557020 ; RCV000996687 ; RCV002341293 ; RCV003999045
• dbSNP Id: rs1555685629
• gnomAD v4: 18-51054805-A-G
• MyVariant Identifiers: chr18:g.48581175A>G (hg19) ; chr18:g.51054805A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51054805A>G , CM000680.2:g.51054805A>G	GRCh38
NC_000018.9:g.48581175A>G , CM000680.1:g.48581175A>G	GRCh37
NC_000018.8:g.46835173A>G	NCBI36
NG_013013.2:g.91766A>G , LRG_318:g.91766A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.479A>G	ENSP00000465878.2:p.Asp160Gly
ENST00000589076.6:c.479A>G	ENSP00000466934.2:p.Asp160Gly
ENST00000589941.2:c.479A>G	ENSP00000465874.2:p.Asp160Gly
ENST00000590061.2:c.479A>G	ENSP00000464772.2:p.Asp160Gly
ENST00000593223.2:c.479A>G	ENSP00000466118.2:p.Asp160Gly
ENST00000611848.2:c.479A>G	ENSP00000478613.2:p.Asp160Gly
ENST00000684953.1:n.1851A>G
ENST00000342988.8:c.479A>G MANE Select	ENSP00000341551.3:p.Asp160Gly
ENST00000342988.7:c.479A>G	ENSP00000341551.3:p.Asp160Gly
ENST00000398417.6:c.479A>G	ENSP00000381452.1:p.Asp160Gly
ENST00000585448.1:n.348A>G
ENST00000588745.5:c.479A>G	ENSP00000464901.1:p.Asp160Gly
ENST00000590722.2:c.*655A>G	ENSP00000465737.1:n.*655A>G
ENST00000591126.5:n.2480A>G
ENST00000592186.5:c.479A>G	ENSP00000468611.1:p.Asp160Gly
ENST00000592911.5:n.257A>G
NM_005359.5:c.479A>G , LRG_318t1:c.479A>G	NP_005350.1:p.Asp160Gly
NM_005359.6:c.479A>G MANE Select	NP_005350.1:p.Asp160Gly