Canonical Allele Identifier: CA16602963

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 376537
• ClinVar RCV Id: RCV000420512 ; RCV000427058 ; RCV000430022 ; RCV000436766 ; RCV000438138 ; RCV000443924
• dbSNP Id: rs121912580
• COSMIC: COSM1172551
• MyVariant Identifiers: chr18:g.48593406G>T (hg19) ; chr18:g.51067036G>T (hg38)
• PubMed: PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067036G>T , CM000680.2:g.51067036G>T	GRCh38
NC_000018.9:g.48593406G>T , CM000680.1:g.48593406G>T	GRCh37
NC_000018.8:g.46847404G>T	NCBI36
NG_013013.2:g.103997G>T , LRG_318:g.103997G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1157G>T	ENSP00000465878.2:p.Gly386Val
ENST00000589076.6:c.1157G>T	ENSP00000466934.2:p.Gly386Val
ENST00000589941.2:c.1157G>T	ENSP00000465874.2:p.Gly386Val
ENST00000590061.2:c.1157G>T	ENSP00000464772.2:p.Gly386Val
ENST00000593223.2:c.1157G>T	ENSP00000466118.2:p.Gly386Val
ENST00000611848.2:c.1157G>T	ENSP00000478613.2:p.Gly386Val
ENST00000684953.1:n.2529G>T
ENST00000685090.1:n.1608G>T
ENST00000685232.1:n.1265G>T
ENST00000688574.1:n.1265G>T
ENST00000691124.1:n.2639G>T
ENST00000342988.8:c.1157G>T MANE Select	ENSP00000341551.3:p.Gly386Val
ENST00000342988.7:c.1157G>T	ENSP00000341551.3:p.Gly386Val
ENST00000398417.6:c.1157G>T	ENSP00000381452.1:p.Gly386Val
ENST00000588745.5:c.869G>T	ENSP00000464901.1:p.Gly290Val
ENST00000590499.1:n.215G>T
ENST00000591126.5:n.3158G>T
ENST00000592186.5:c.955+7120G>T	ENSP00000468611.1:n.955+7120G>T
ENST00000611848.1:c.357G>T
NM_005359.5:c.1157G>T , LRG_318t1:c.1157G>T	NP_005350.1:p.Gly386Val
NM_005359.6:c.1157G>T MANE Select	NP_005350.1:p.Gly386Val