Canonical Allele Identifier: CA2302980416

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065443A= , CM000680.2:g.51065443A=	GRCh38
NC_000018.9:g.48591813A= , CM000680.1:g.48591813A=	GRCh37
NC_000018.8:g.46845811A=	NCBI36
NG_013013.2:g.102404A= , LRG_318:g.102404A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.976A=	ENSP00000465878.2:p.Ile326=
ENST00000589076.6:c.976A=	ENSP00000466934.2:p.Ile326=
ENST00000589941.2:c.976A=	ENSP00000465874.2:p.Ile326=
ENST00000590061.2:c.976A=	ENSP00000464772.2:p.Ile326=
ENST00000593223.2:c.976A=	ENSP00000466118.2:p.Ile326=
ENST00000611848.2:c.976A=	ENSP00000478613.2:p.Ile326=
ENST00000684953.1:n.2348A=
ENST00000685090.1:n.1427A=
ENST00000685232.1:n.1084A=
ENST00000688307.1:n.227A=
ENST00000688574.1:n.1084A=
ENST00000688903.1:n.1190A=
ENST00000691124.1:n.2458A=
ENST00000342988.8:c.976A= MANE Select	ENSP00000341551.3:p.Ile326=
ENST00000342988.7:c.976A=	ENSP00000341551.3:p.Ile326=
ENST00000398417.6:c.976A=	ENSP00000381452.1:p.Ile326=
ENST00000588745.5:c.688A=	ENSP00000464901.1:p.Ile230=
ENST00000591126.5:n.2977A=
ENST00000592186.5:c.955+5527A=	ENSP00000468611.1:n.955+5527A=
ENST00000611848.1:c.176A=
NM_005359.5:c.976A= , LRG_318t1:c.976A=	NP_005350.1:p.Ile326=
NM_005359.6:c.976A= MANE Select	NP_005350.1:p.Ile326=