Canonical Allele Identifier: CA186851

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 183879
• ClinVar RCV Id: RCV002277319 ; RCV002310726 ; RCV003474847
• dbSNP Id: rs748622028
• ExAC: 18:48586271 A / G
• gnomAD v2: 18-48586271-A-G
• gnomAD v3: 18-51059901-A-G
• gnomAD v4: 18-51059901-A-G
• MyVariant Identifiers: chr18:g.48586271A>G (hg19) ; chr18:g.51059901A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51059901A>G , CM000680.2:g.51059901A>G	GRCh38
NC_000018.9:g.48586271A>G , CM000680.1:g.48586271A>G	GRCh37
NC_000018.8:g.46840269A>G	NCBI36
NG_013013.2:g.96862A>G , LRG_318:g.96862A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.940A>G	ENSP00000465878.2:p.Ile314Val
ENST00000589076.6:c.940A>G	ENSP00000466934.2:p.Ile314Val
ENST00000589941.2:c.940A>G	ENSP00000465874.2:p.Ile314Val
ENST00000590061.2:c.940A>G	ENSP00000464772.2:p.Ile314Val
ENST00000593223.2:c.940A>G	ENSP00000466118.2:p.Ile314Val
ENST00000611848.2:c.940A>G	ENSP00000478613.2:p.Ile314Val
ENST00000684953.1:n.2312A>G
ENST00000685090.1:n.1391A>G
ENST00000685232.1:n.1048A>G
ENST00000688307.1:n.191A>G
ENST00000688574.1:n.1048A>G
ENST00000688903.1:n.1154A>G
ENST00000690892.1:n.1048A>G
ENST00000342988.8:c.940A>G MANE Select	ENSP00000341551.3:p.Ile314Val
ENST00000342988.7:c.940A>G	ENSP00000341551.3:p.Ile314Val
ENST00000398417.6:c.940A>G	ENSP00000381452.1:p.Ile314Val
ENST00000588745.5:c.667+4908A>G	ENSP00000464901.1:n.667+4908A>G
ENST00000591126.5:n.2941A>G
ENST00000592186.5:c.940A>G	ENSP00000468611.1:p.Ile314Val
ENST00000611848.1:c.140A>G
NM_005359.5:c.940A>G , LRG_318t1:c.940A>G	NP_005350.1:p.Ile314Val
NM_005359.6:c.940A>G MANE Select	NP_005350.1:p.Ile314Val