Canonical Allele Identifier: CA2302977983

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51059880G= , CM000680.2:g.51059880G=	GRCh38
NC_000018.9:g.48586250G= , CM000680.1:g.48586250G=	GRCh37
NC_000018.8:g.46840248G=	NCBI36
NG_013013.2:g.96841G= , LRG_318:g.96841G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.919G=	ENSP00000465878.2:p.Glu307=
ENST00000589076.6:c.919G=	ENSP00000466934.2:p.Glu307=
ENST00000589941.2:c.919G=	ENSP00000465874.2:p.Glu307=
ENST00000590061.2:c.919G=	ENSP00000464772.2:p.Glu307=
ENST00000593223.2:c.919G=	ENSP00000466118.2:p.Glu307=
ENST00000611848.2:c.919G=	ENSP00000478613.2:p.Glu307=
ENST00000684953.1:n.2291G=
ENST00000685090.1:n.1370G=
ENST00000685232.1:n.1027G=
ENST00000688307.1:n.170G=
ENST00000688574.1:n.1027G=
ENST00000688903.1:n.1133G=
ENST00000690892.1:n.1027G=
ENST00000342988.8:c.919G= MANE Select	ENSP00000341551.3:p.Glu307=
ENST00000342988.7:c.919G=	ENSP00000341551.3:p.Glu307=
ENST00000398417.6:c.919G=	ENSP00000381452.1:p.Glu307=
ENST00000588745.5:c.667+4887G=	ENSP00000464901.1:n.667+4887G=
ENST00000591126.5:n.2920G=
ENST00000592186.5:c.919G=	ENSP00000468611.1:p.Glu307=
ENST00000611848.1:c.119G=
NM_005359.5:c.919G= , LRG_318t1:c.919G=	NP_005350.1:p.Glu307=
NM_005359.6:c.919G= MANE Select	NP_005350.1:p.Glu307=