Canonical Allele Identifier: CA259219

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 38283
• ClinVar RCV Id: RCV001376547 ; RCV002453278 ; RCV004018695
• dbSNP Id: rs377767353
• COSMIC: COSM1226732
• MyVariant Identifiers: chr18:g.48591976G>A (hg19) ; chr18:g.51065606G>A (hg38)
• PubMed: PMID:17873119

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065606G>A , CM000680.2:g.51065606G>A	GRCh38
NC_000018.9:g.48591976G>A , CM000680.1:g.48591976G>A	GRCh37
NC_000018.8:g.46845974G>A	NCBI36
NG_013013.2:g.102567G>A , LRG_318:g.102567G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1139G>A	ENSP00000465878.2:p.Arg380Lys
ENST00000589076.6:c.1139G>A	ENSP00000466934.2:p.Arg380Lys
ENST00000589941.2:c.1139G>A	ENSP00000465874.2:p.Arg380Lys
ENST00000590061.2:c.1139G>A	ENSP00000464772.2:p.Arg380Lys
ENST00000593223.2:c.1139G>A	ENSP00000466118.2:p.Arg380Lys
ENST00000611848.2:c.1139G>A	ENSP00000478613.2:p.Arg380Lys
ENST00000684953.1:n.2511G>A
ENST00000685090.1:n.1590G>A
ENST00000685232.1:n.1247G>A
ENST00000688307.1:n.390G>A
ENST00000688574.1:n.1247G>A
ENST00000688903.1:n.1353G>A
ENST00000691124.1:n.2621G>A
ENST00000342988.8:c.1139G>A MANE Select	ENSP00000341551.3:p.Arg380Lys
ENST00000342988.7:c.1139G>A	ENSP00000341551.3:p.Arg380Lys
ENST00000398417.6:c.1139G>A	ENSP00000381452.1:p.Arg380Lys
ENST00000588745.5:c.851G>A	ENSP00000464901.1:p.Arg284Lys
ENST00000591126.5:n.3140G>A
ENST00000592186.5:c.955+5690G>A	ENSP00000468611.1:n.955+5690G>A
ENST00000611848.1:c.339G>A
NM_005359.5:c.1139G>A , LRG_318t1:c.1139G>A	NP_005350.1:p.Arg380Lys
NM_005359.6:c.1139G>A MANE Select	NP_005350.1:p.Arg380Lys