Canonical Allele Identifier: CA2499225198

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1074875
• ClinVar RCV Id: RCV001388316
• dbSNP Id: rs2144401809

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51047269del , CM000680.2:g.51047269del	GRCh38
NC_000018.9:g.48573639del , CM000680.1:g.48573639del	GRCh37
NC_000018.8:g.46827637del	NCBI36
NG_013013.2:g.84230del , LRG_318:g.84230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.223del	ENSP00000465878.2:p.Gln75ArgfsTer19
ENST00000589076.6:c.223del	ENSP00000466934.2:p.Gln75ArgfsTer19
ENST00000589941.2:c.223del	ENSP00000465874.2:p.Gln75ArgfsTer19
ENST00000590061.2:c.223del	ENSP00000464772.2:p.Gln75ArgfsTer19
ENST00000593223.2:c.223del	ENSP00000466118.2:p.Gln75ArgfsTer19
ENST00000611848.2:c.223del	ENSP00000478613.2:p.Gln75ArgfsTer19
ENST00000342988.8:c.223del MANE Select	ENSP00000341551.3:p.Gln75ArgfsTer19
ENST00000342988.7:c.223del	ENSP00000341551.3:p.Gln75ArgfsTer19
ENST00000398417.6:c.223del	ENSP00000381452.1:p.Gln75ArgfsTer19
ENST00000588745.5:c.223del	ENSP00000464901.1:p.Gln75ArgfsTer19
ENST00000588860.5:c.223del	ENSP00000465878.1:p.Gln75ArgfsTer19
ENST00000589076.5:c.223del	ENSP00000466934.1:p.Gln75ArgfsTer?
ENST00000589706.1:n.91del
ENST00000589941.1:c.223del	ENSP00000465874.1:p.Gln75ArgfsTer19
ENST00000590061.1:c.223del	ENSP00000464772.1:p.Gln75ArgfsTer19
ENST00000590722.2:c.*246del	ENSP00000465737.1:n.*246del
ENST00000591914.5:c.223del	ENSP00000466941.1:p.Gln75ArgfsTer19
ENST00000592186.5:c.223del	ENSP00000468611.1:p.Gln75ArgfsTer19
ENST00000592911.5:n.28-1417del
NM_005359.5:c.223del , LRG_318t1:c.223del	NP_005350.1:p.Gln75ArgfsTer19
NM_005359.6:c.223del MANE Select	NP_005350.1:p.Gln75ArgfsTer19