Canonical Allele Identifier: CA128981

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 30151
• ClinVar RCV Id: RCV000023062 ; RCV000059735
• dbSNP Id: rs281875320
• MyVariant Identifiers: chr18:g.48604678A>G (hg19) ; chr18:g.51078308A>G (hg38)
• PubMed: PMID:22158539 ; PMID:28406602

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078308A>G , CM000680.2:g.51078308A>G	GRCh38
NC_000018.9:g.48604678A>G , CM000680.1:g.48604678A>G	GRCh37
NC_000018.8:g.46858676A>G	NCBI36
NG_013013.2:g.115269A>G , LRG_318:g.115269A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1500A>G	ENSP00000465878.2:p.Ile500Met
ENST00000589076.6:c.1500A>G	ENSP00000466934.2:p.Ile500Met
ENST00000589941.2:c.1500A>G	ENSP00000465874.2:p.Ile500Met
ENST00000590061.2:c.1500A>G	ENSP00000464772.2:p.Ile500Met
ENST00000593223.2:c.*1497A>G	ENSP00000466118.2:n.*1497A>G
ENST00000611848.2:c.*152A>G	ENSP00000478613.2:n.*152A>G
ENST00000684953.1:n.3515A>G
ENST00000685090.1:n.3430A>G
ENST00000685232.1:n.1721A>G
ENST00000688574.1:n.1608A>G
ENST00000691124.1:n.4461A>G
ENST00000342988.8:c.1500A>G MANE Select	ENSP00000341551.3:p.Ile500Met
ENST00000342988.7:c.1500A>G	ENSP00000341551.3:p.Ile500Met
ENST00000398417.6:c.1500A>G	ENSP00000381452.1:p.Ile500Met
ENST00000586253.1:n.222A>G
ENST00000588745.5:c.1212A>G	ENSP00000464901.1:p.Ile404Met
ENST00000591126.5:n.3501A>G
ENST00000592186.5:c.1147A>G	ENSP00000468611.1:n.1147A>G
ENST00000611848.1:c.813A>G
NM_005359.5:c.1500A>G , LRG_318t1:c.1500A>G	NP_005350.1:p.Ile500Met
NM_005359.6:c.1500A>G MANE Select	NP_005350.1:p.Ile500Met