Canonical Allele Identifier: CA2302977244

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058414C= , CM000680.2:g.51058414C=	GRCh38
NC_000018.9:g.48584784C= , CM000680.1:g.48584784C=	GRCh37
NC_000018.8:g.46838782C=	NCBI36
NG_013013.2:g.95375C= , LRG_318:g.95375C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.862C=	ENSP00000465878.2:p.Leu288=
ENST00000589076.6:c.862C=	ENSP00000466934.2:p.Leu288=
ENST00000589941.2:c.862C=	ENSP00000465874.2:p.Leu288=
ENST00000590061.2:c.862C=	ENSP00000464772.2:p.Leu288=
ENST00000593223.2:c.862C=	ENSP00000466118.2:p.Leu288=
ENST00000611848.2:c.862C=	ENSP00000478613.2:p.Leu288=
ENST00000684953.1:n.2234C=
ENST00000685232.1:n.970C=
ENST00000688307.1:n.156-1452C=
ENST00000688574.1:n.970C=
ENST00000688903.1:n.1076C=
ENST00000690892.1:n.970C=
ENST00000342988.8:c.862C= MANE Select	ENSP00000341551.3:p.Leu288=
ENST00000342988.7:c.862C=	ENSP00000341551.3:p.Leu288=
ENST00000398417.6:c.862C=	ENSP00000381452.1:p.Leu288=
ENST00000588745.5:c.667+3421C=	ENSP00000464901.1:n.667+3421C=
ENST00000591126.5:n.2863C=
ENST00000592186.5:c.862C=	ENSP00000468611.1:p.Leu288=
ENST00000611848.1:c.62C=
NM_005359.5:c.862C= , LRG_318t1:c.862C=	NP_005350.1:p.Leu288=
NM_005359.6:c.862C= MANE Select	NP_005350.1:p.Leu288=