Canonical Allele Identifier: CA2302980492

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065504C= , CM000680.2:g.51065504C=	GRCh38
NC_000018.9:g.48591874C= , CM000680.1:g.48591874C=	GRCh37
NC_000018.8:g.46845872C=	NCBI36
NG_013013.2:g.102465C= , LRG_318:g.102465C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1037C=	ENSP00000465878.2:p.Pro346=
ENST00000589076.6:c.1037C=	ENSP00000466934.2:p.Pro346=
ENST00000589941.2:c.1037C=	ENSP00000465874.2:p.Pro346=
ENST00000590061.2:c.1037C=	ENSP00000464772.2:p.Pro346=
ENST00000593223.2:c.1037C=	ENSP00000466118.2:p.Pro346=
ENST00000611848.2:c.1037C=	ENSP00000478613.2:p.Pro346=
ENST00000684953.1:n.2409C=
ENST00000685090.1:n.1488C=
ENST00000685232.1:n.1145C=
ENST00000688307.1:n.288C=
ENST00000688574.1:n.1145C=
ENST00000688903.1:n.1251C=
ENST00000691124.1:n.2519C=
ENST00000342988.8:c.1037C= MANE Select	ENSP00000341551.3:p.Pro346=
ENST00000342988.7:c.1037C=	ENSP00000341551.3:p.Pro346=
ENST00000398417.6:c.1037C=	ENSP00000381452.1:p.Pro346=
ENST00000588745.5:c.749C=	ENSP00000464901.1:p.Pro250=
ENST00000591126.5:n.3038C=
ENST00000592186.5:c.955+5588C=	ENSP00000468611.1:n.955+5588C=
ENST00000611848.1:c.237C=
NM_005359.5:c.1037C= , LRG_318t1:c.1037C=	NP_005350.1:p.Pro346=
NM_005359.6:c.1037C= MANE Select	NP_005350.1:p.Pro346=