Canonical Allele Identifier: CA2573054676

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1339744
• ClinVar RCV Id: RCV001825132
• dbSNP Id: rs2144429392

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51058446del , CM000680.2:g.51058446del	GRCh38
NC_000018.9:g.48584816del , CM000680.1:g.48584816del	GRCh37
NC_000018.8:g.46838814del	NCBI36
NG_013013.2:g.95407del , LRG_318:g.95407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.894del	ENSP00000465878.2:p.Gly299AspfsTer?
ENST00000589076.6:c.894del	ENSP00000466934.2:p.Gly299AspfsTer?
ENST00000589941.2:c.894del	ENSP00000465874.2:p.Gly299AspfsTer?
ENST00000590061.2:c.894del	ENSP00000464772.2:p.Gly299AspfsTer?
ENST00000593223.2:c.894del	ENSP00000466118.2:p.Gly299AspfsTer?
ENST00000611848.2:c.894del	ENSP00000478613.2:p.Gly299AspfsTer?
ENST00000684953.1:n.2266del
ENST00000685232.1:n.1002del
ENST00000688307.1:n.156-1420del
ENST00000688574.1:n.1002del
ENST00000688903.1:n.1108del
ENST00000690892.1:n.1002del
ENST00000342988.8:c.894del MANE Select	ENSP00000341551.3:p.Gly299AspfsTer?
ENST00000342988.7:c.894del	ENSP00000341551.3:p.Gly299AspfsTer?
ENST00000398417.6:c.894del	ENSP00000381452.1:p.Gly299AspfsTer?
ENST00000588745.5:c.667+3453del	ENSP00000464901.1:n.667+3453del
ENST00000591126.5:n.2895del
ENST00000592186.5:c.894del	ENSP00000468611.1:p.Gly299AspfsTer?
ENST00000611848.1:c.94del
NM_005359.5:c.894del , LRG_318t1:c.894del	NP_005350.1:p.Gly299AspfsTer?
NM_005359.6:c.894del MANE Select	NP_005350.1:p.Gly299AspfsTer?