Canonical Allele Identifier: CA2302981497

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067038G= , CM000680.2:g.51067038G=	GRCh38
NC_000018.9:g.48593408G= , CM000680.1:g.48593408G=	GRCh37
NC_000018.8:g.46847406G=	NCBI36
NG_013013.2:g.103999G= , LRG_318:g.103999G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1159G=	ENSP00000465878.2:p.Val387=
ENST00000589076.6:c.1159G=	ENSP00000466934.2:p.Val387=
ENST00000589941.2:c.1159G=	ENSP00000465874.2:p.Val387=
ENST00000590061.2:c.1159G=	ENSP00000464772.2:p.Val387=
ENST00000593223.2:c.1159G=	ENSP00000466118.2:p.Val387=
ENST00000611848.2:c.1159G=	ENSP00000478613.2:p.Val387=
ENST00000684953.1:n.2531G=
ENST00000685090.1:n.1610G=
ENST00000685232.1:n.1267G=
ENST00000688574.1:n.1267G=
ENST00000691124.1:n.2641G=
ENST00000342988.8:c.1159G= MANE Select	ENSP00000341551.3:p.Val387=
ENST00000342988.7:c.1159G=	ENSP00000341551.3:p.Val387=
ENST00000398417.6:c.1159G=	ENSP00000381452.1:p.Val387=
ENST00000588745.5:c.871G=	ENSP00000464901.1:p.Val291=
ENST00000590499.1:n.217G=
ENST00000591126.5:n.3160G=
ENST00000592186.5:c.955+7122G=	ENSP00000468611.1:n.955+7122G=
ENST00000611848.1:c.359G=
NM_005359.5:c.1159G= , LRG_318t1:c.1159G=	NP_005350.1:p.Val387=
NM_005359.6:c.1159G= MANE Select	NP_005350.1:p.Val387=