Canonical Allele Identifier: CA2580095862

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 1753181
• ClinVar RCV Id: RCV002369126

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065486dup , CM000680.2:g.51065486dup	GRCh38
NC_000018.9:g.48591856dup , CM000680.1:g.48591856dup	GRCh37
NC_000018.8:g.46845854dup	NCBI36
NG_013013.2:g.102447dup , LRG_318:g.102447dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1019dup	ENSP00000465878.2:p.Val341GlyfsTer11
ENST00000589076.6:c.1019dup	ENSP00000466934.2:p.Val341GlyfsTer11
ENST00000589941.2:c.1019dup	ENSP00000465874.2:p.Val341GlyfsTer11
ENST00000590061.2:c.1019dup	ENSP00000464772.2:p.Val341GlyfsTer11
ENST00000593223.2:c.1019dup	ENSP00000466118.2:p.Val341GlyfsTer11
ENST00000611848.2:c.1019dup	ENSP00000478613.2:p.Val341GlyfsTer11
ENST00000684953.1:n.2391dup
ENST00000685090.1:n.1470dup
ENST00000685232.1:n.1127dup
ENST00000688307.1:n.270dup
ENST00000688574.1:n.1127dup
ENST00000688903.1:n.1233dup
ENST00000691124.1:n.2501dup
ENST00000342988.8:c.1019dup MANE Select	ENSP00000341551.3:p.Val341GlyfsTer11
ENST00000342988.7:c.1019dup	ENSP00000341551.3:p.Val341GlyfsTer11
ENST00000398417.6:c.1019dup	ENSP00000381452.1:p.Val341GlyfsTer11
ENST00000588745.5:c.731dup	ENSP00000464901.1:p.Val245GlyfsTer11
ENST00000591126.5:n.3020dup
ENST00000592186.5:c.955+5570dup	ENSP00000468611.1:n.955+5570dup
ENST00000611848.1:c.219dup
NM_005359.5:c.1019dup , LRG_318t1:c.1019dup	NP_005350.1:p.Val341GlyfsTer11
NM_005359.6:c.1019dup MANE Select	NP_005350.1:p.Val341GlyfsTer11