Canonical Allele Identifier: CA402462635

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 619726
• ClinVar RCV Id: RCV000759349 ; RCV001066745 ; RCV002386320 ; RCV003472281 ; RCV003584738
• dbSNP Id: rs1280682459
• gnomAD v3: 18-51058139-A-G
• gnomAD v4: 18-51058139-A-G
• MyVariant Identifiers: chr18:g.48584509A>G (hg19) ; chr18:g.51058139A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058139A>G , CM000680.2:g.51058139A>G	GRCh38
NC_000018.9:g.48584509A>G , CM000680.1:g.48584509A>G	GRCh37
NC_000018.8:g.46838507A>G	NCBI36
NG_013013.2:g.95100A>G , LRG_318:g.95100A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.682A>G	ENSP00000465878.2:p.Ile228Val
ENST00000589076.6:c.682A>G	ENSP00000466934.2:p.Ile228Val
ENST00000589941.2:c.682A>G	ENSP00000465874.2:p.Ile228Val
ENST00000590061.2:c.682A>G	ENSP00000464772.2:p.Ile228Val
ENST00000593223.2:c.682A>G	ENSP00000466118.2:p.Ile228Val
ENST00000611848.2:c.682A>G	ENSP00000478613.2:p.Ile228Val
ENST00000684953.1:n.2054A>G
ENST00000685232.1:n.790A>G
ENST00000688307.1:n.156-1727A>G
ENST00000688574.1:n.790A>G
ENST00000688903.1:n.896A>G
ENST00000690892.1:n.790A>G
ENST00000342988.8:c.682A>G MANE Select	ENSP00000341551.3:p.Ile228Val
ENST00000342988.7:c.682A>G	ENSP00000341551.3:p.Ile228Val
ENST00000398417.6:c.682A>G	ENSP00000381452.1:p.Ile228Val
ENST00000588745.5:c.667+3146A>G	ENSP00000464901.1:n.667+3146A>G
ENST00000590722.2:c.*858A>G	ENSP00000465737.1:n.*858A>G
ENST00000591126.5:n.2683A>G
ENST00000592186.5:c.682A>G	ENSP00000468611.1:p.Ile228Val
ENST00000592911.5:n.460A>G
NM_005359.5:c.682A>G , LRG_318t1:c.682A>G	NP_005350.1:p.Ile228Val
NM_005359.6:c.682A>G MANE Select	NP_005350.1:p.Ile228Val