Canonical Allele Identifier: CA402465393

Gene: SMAD4

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51076776A>C , CM000680.2:g.51076776A>C	GRCh38
NC_000018.9:g.48603146A>C , CM000680.1:g.48603146A>C	GRCh37
NC_000018.8:g.46857144A>C	NCBI36
NG_013013.2:g.113737A>C , LRG_318:g.113737A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1447A>C	ENSP00000465878.2:p.Ser483Arg
ENST00000589076.6:c.1447A>C	ENSP00000466934.2:p.Ser483Arg
ENST00000589941.2:c.1447A>C	ENSP00000465874.2:p.Ser483Arg
ENST00000590061.2:c.1447A>C	ENSP00000464772.2:p.Ser483Arg
ENST00000593223.2:c.1447A>C	ENSP00000466118.2:p.Ser483Arg
ENST00000611848.2:c.1447A>C	ENSP00000478613.2:p.Lys483Gln
ENST00000684953.1:n.2819A>C
ENST00000685090.1:n.1898A>C
ENST00000685232.1:n.1555A>C
ENST00000688574.1:n.1555A>C
ENST00000691124.1:n.2929A>C
ENST00000342988.8:c.1447A>C MANE Select	ENSP00000341551.3:p.Ser483Arg
ENST00000342988.7:c.1447A>C	ENSP00000341551.3:p.Ser483Arg
ENST00000398417.6:c.1447A>C	ENSP00000381452.1:p.Ser483Arg
ENST00000588745.5:c.1159A>C	ENSP00000464901.1:p.Ser387Arg
ENST00000590499.1:n.505A>C
ENST00000591126.5:n.3448A>C
ENST00000592186.5:c.1094A>C	ENSP00000468611.1:n.1094A>C
ENST00000593223.1:c.214A>C	ENSP00000466118.1:p.Ser72Arg
ENST00000611848.1:c.647A>C
NM_005359.5:c.1447A>C , LRG_318t1:c.1447A>C	NP_005350.1:p.Ser483Arg
NM_005359.6:c.1447A>C MANE Select	NP_005350.1:p.Ser483Arg