Canonical Allele Identifier: CA2302980430

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065469G= , CM000680.2:g.51065469G=	GRCh38
NC_000018.9:g.48591839G= , CM000680.1:g.48591839G=	GRCh37
NC_000018.8:g.46845837G=	NCBI36
NG_013013.2:g.102430G= , LRG_318:g.102430G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1002G=	ENSP00000465878.2:p.Gln334=
ENST00000589076.6:c.1002G=	ENSP00000466934.2:p.Gln334=
ENST00000589941.2:c.1002G=	ENSP00000465874.2:p.Gln334=
ENST00000590061.2:c.1002G=	ENSP00000464772.2:p.Gln334=
ENST00000593223.2:c.1002G=	ENSP00000466118.2:p.Gln334=
ENST00000611848.2:c.1002G=	ENSP00000478613.2:p.Gln334=
ENST00000684953.1:n.2374G=
ENST00000685090.1:n.1453G=
ENST00000685232.1:n.1110G=
ENST00000688307.1:n.253G=
ENST00000688574.1:n.1110G=
ENST00000688903.1:n.1216G=
ENST00000691124.1:n.2484G=
ENST00000342988.8:c.1002G= MANE Select	ENSP00000341551.3:p.Gln334=
ENST00000342988.7:c.1002G=	ENSP00000341551.3:p.Gln334=
ENST00000398417.6:c.1002G=	ENSP00000381452.1:p.Gln334=
ENST00000588745.5:c.714G=	ENSP00000464901.1:p.Gln238=
ENST00000591126.5:n.3003G=
ENST00000592186.5:c.955+5553G=	ENSP00000468611.1:n.955+5553G=
ENST00000611848.1:c.202G=
NM_005359.5:c.1002G= , LRG_318t1:c.1002G=	NP_005350.1:p.Gln334=
NM_005359.6:c.1002G= MANE Select	NP_005350.1:p.Gln334=