Canonical Allele Identifier: CA2580095839

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 2452506
• ClinVar RCV Id: RCV003172600

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058346dup , CM000680.2:g.51058346dup	GRCh38
NC_000018.9:g.48584716dup , CM000680.1:g.48584716dup	GRCh37
NC_000018.8:g.46838714dup	NCBI36
NG_013013.2:g.95307dup , LRG_318:g.95307dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.794dup	ENSP00000465878.2:p.Thr266TyrfsTer7
ENST00000589076.6:c.794dup	ENSP00000466934.2:p.Thr266TyrfsTer7
ENST00000589941.2:c.794dup	ENSP00000465874.2:p.Thr266TyrfsTer7
ENST00000590061.2:c.794dup	ENSP00000464772.2:p.Thr266TyrfsTer7
ENST00000593223.2:c.794dup	ENSP00000466118.2:p.Thr266TyrfsTer7
ENST00000611848.2:c.794dup	ENSP00000478613.2:p.Thr266TyrfsTer7
ENST00000684953.1:n.2166dup
ENST00000685232.1:n.902dup
ENST00000688307.1:n.156-1520dup
ENST00000688574.1:n.902dup
ENST00000688903.1:n.1008dup
ENST00000690892.1:n.902dup
ENST00000342988.8:c.794dup MANE Select	ENSP00000341551.3:p.Thr266TyrfsTer7
ENST00000342988.7:c.794dup	ENSP00000341551.3:p.Thr266TyrfsTer7
ENST00000398417.6:c.794dup	ENSP00000381452.1:p.Thr266TyrfsTer7
ENST00000588745.5:c.667+3353dup	ENSP00000464901.1:n.667+3353dup
ENST00000591126.5:n.2795dup
ENST00000592186.5:c.794dup	ENSP00000468611.1:p.Thr266TyrfsTer7
NM_005359.5:c.794dup , LRG_318t1:c.794dup	NP_005350.1:p.Thr266TyrfsTer7
NM_005359.6:c.794dup MANE Select	NP_005350.1:p.Thr266TyrfsTer7