Canonical Allele Identifier: CA2302977098

Gene: SMAD4

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058154C= , CM000680.2:g.51058154C=	GRCh38
NC_000018.9:g.48584524C= , CM000680.1:g.48584524C=	GRCh37
NC_000018.8:g.46838522C=	NCBI36
NG_013013.2:g.95115C= , LRG_318:g.95115C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.697C=	ENSP00000465878.2:p.His233=
ENST00000589076.6:c.697C=	ENSP00000466934.2:p.His233=
ENST00000589941.2:c.697C=	ENSP00000465874.2:p.His233=
ENST00000590061.2:c.697C=	ENSP00000464772.2:p.His233=
ENST00000593223.2:c.697C=	ENSP00000466118.2:p.His233=
ENST00000611848.2:c.697C=	ENSP00000478613.2:p.His233=
ENST00000684953.1:n.2069C=
ENST00000685232.1:n.805C=
ENST00000688307.1:n.156-1712C=
ENST00000688574.1:n.805C=
ENST00000688903.1:n.911C=
ENST00000690892.1:n.805C=
ENST00000342988.8:c.697C= MANE Select	ENSP00000341551.3:p.His233=
ENST00000342988.7:c.697C=	ENSP00000341551.3:p.His233=
ENST00000398417.6:c.697C=	ENSP00000381452.1:p.His233=
ENST00000588745.5:c.667+3161C=	ENSP00000464901.1:n.667+3161C=
ENST00000591126.5:n.2698C=
ENST00000592186.5:c.697C=	ENSP00000468611.1:p.His233=
ENST00000592911.5:n.475C=
NM_005359.5:c.697C= , LRG_318t1:c.697C=	NP_005350.1:p.His233=
NM_005359.6:c.697C= MANE Select	NP_005350.1:p.His233=