Canonical Allele Identifier: CA503993916

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 529957
• ClinVar RCV Id: RCV000635496 ; RCV001027241 ; RCV001712772 ; RCV002448965 ; RCV004003837
• dbSNP Id: rs1231028123
• gnomAD v2: 18-48584738-G-A
• gnomAD v4: 18-51058368-G-A
• MyVariant Identifiers: chr18:g.48584738G>A (hg19) ; chr18:g.51058368G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058368G>A , CM000680.2:g.51058368G>A	GRCh38
NC_000018.9:g.48584738G>A , CM000680.1:g.48584738G>A	GRCh37
NC_000018.8:g.46838736G>A	NCBI36
NG_013013.2:g.95329G>A , LRG_318:g.95329G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.816G>A	ENSP00000465878.2:p.Arg272=
ENST00000589076.6:c.816G>A	ENSP00000466934.2:p.Arg272=
ENST00000589941.2:c.816G>A	ENSP00000465874.2:p.Arg272=
ENST00000590061.2:c.816G>A	ENSP00000464772.2:p.Arg272=
ENST00000593223.2:c.816G>A	ENSP00000466118.2:p.Arg272=
ENST00000611848.2:c.816G>A	ENSP00000478613.2:p.Arg272=
ENST00000684953.1:n.2188G>A
ENST00000685232.1:n.924G>A
ENST00000688307.1:n.156-1498G>A
ENST00000688574.1:n.924G>A
ENST00000688903.1:n.1030G>A
ENST00000690892.1:n.924G>A
ENST00000342988.8:c.816G>A MANE Select	ENSP00000341551.3:p.Arg272=
ENST00000342988.7:c.816G>A	ENSP00000341551.3:p.Arg272=
ENST00000398417.6:c.816G>A	ENSP00000381452.1:p.Arg272=
ENST00000588745.5:c.667+3375G>A	ENSP00000464901.1:n.667+3375G>A
ENST00000591126.5:n.2817G>A
ENST00000592186.5:c.816G>A	ENSP00000468611.1:p.Arg272=
ENST00000611848.1:c.16G>A
NM_005359.5:c.816G>A , LRG_318t1:c.816G>A	NP_005350.1:p.Arg272=
NM_005359.6:c.816G>A MANE Select	NP_005350.1:p.Arg272=