Canonical Allele Identifier: CA402464958

Gene: SMAD4

Linked Data

• dbSNP Id: rs2144452583
• MyVariant Identifiers: chr18:g.48593499A>T (hg19) ; chr18:g.51067129A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067129A>T , CM000680.2:g.51067129A>T	GRCh38
NC_000018.9:g.48593499A>T , CM000680.1:g.48593499A>T	GRCh37
NC_000018.8:g.46847497A>T	NCBI36
NG_013013.2:g.104090A>T , LRG_318:g.104090A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588860.6:c.1250A>T	ENSP00000465878.2:p.Glu417Val
ENST00000589076.6:c.1250A>T	ENSP00000466934.2:p.Glu417Val
ENST00000589941.2:c.1250A>T	ENSP00000465874.2:p.Glu417Val
ENST00000590061.2:c.1250A>T	ENSP00000464772.2:p.Glu417Val
ENST00000593223.2:c.1250A>T	ENSP00000466118.2:p.Glu417Val
ENST00000611848.2:c.1250A>T	ENSP00000478613.2:p.Glu417Val
ENST00000684953.1:n.2622A>T
ENST00000685090.1:n.1701A>T
ENST00000685232.1:n.1358A>T
ENST00000688574.1:n.1358A>T
ENST00000691124.1:n.2732A>T
ENST00000342988.8:c.1250A>T MANE Select	ENSP00000341551.3:p.Glu417Val
ENST00000342988.7:c.1250A>T	ENSP00000341551.3:p.Glu417Val
ENST00000398417.6:c.1250A>T	ENSP00000381452.1:p.Glu417Val
ENST00000588745.5:c.962A>T	ENSP00000464901.1:p.Glu321Val
ENST00000590499.1:n.308A>T
ENST00000591126.5:n.3251A>T
ENST00000592186.5:c.955+7213A>T	ENSP00000468611.1:n.955+7213A>T
ENST00000593223.1:c.17A>T	ENSP00000466118.1:p.Glu6Val
ENST00000611848.1:c.450A>T
NM_005359.5:c.1250A>T , LRG_318t1:c.1250A>T	NP_005350.1:p.Glu417Val
NM_005359.6:c.1250A>T MANE Select	NP_005350.1:p.Glu417Val