Canonical Allele Identifier: CA2302986269

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51076781G= , CM000680.2:g.51076781G=	GRCh38
NC_000018.9:g.48603151G= , CM000680.1:g.48603151G=	GRCh37
NC_000018.8:g.46857149G=	NCBI36
NG_013013.2:g.113742G= , LRG_318:g.113742G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1447+5G=	ENSP00000465878.2:n.1447+5G=
ENST00000589076.6:c.1447+5G=	ENSP00000466934.2:n.1447+5G=
ENST00000589941.2:c.1447+5G=	ENSP00000465874.2:n.1447+5G=
ENST00000590061.2:c.1447+5G=	ENSP00000464772.2:n.1447+5G=
ENST00000593223.2:c.1452G=	ENSP00000466118.2:p.Lys484=
ENST00000611848.2:c.1447+5G=	ENSP00000478613.2:n.1447+5G=
ENST00000684953.1:n.2824G=
ENST00000685090.1:n.1903G=
ENST00000685232.1:n.1555+5G=
ENST00000688574.1:n.1555+5G=
ENST00000691124.1:n.2934G=
ENST00000342988.8:c.1447+5G= MANE Select	ENSP00000341551.3:n.1447+5G=
ENST00000342988.7:c.1447+5G=	ENSP00000341551.3:n.1447+5G=
ENST00000398417.6:c.1447+5G=	ENSP00000381452.1:n.1447+5G=
ENST00000588745.5:c.1159+5G=	ENSP00000464901.1:n.1159+5G=
ENST00000590499.1:n.505+5G=
ENST00000591126.5:n.3448+5G=
ENST00000592186.5:c.1094+5G=	ENSP00000468611.1:n.1094+5G=
ENST00000593223.1:c.219G=	ENSP00000466118.1:p.Lys73=
ENST00000611848.1:c.647+5G=
NM_005359.5:c.1447+5G= , LRG_318t1:c.1447+5G=	NP_005350.1:n.1447+5G=
NM_005359.6:c.1447+5G= MANE Select	NP_005350.1:n.1447+5G=