Canonical Allele Identifier: CA658658749

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 486983
• ClinVar RCV Id: RCV002317324 ; RCV002526926
• dbSNP Id: rs1555686604
• MyVariant Identifiers: chr18:g.48593450dup (hg19) ; chr18:g.51067080dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51067080dup , CM000680.2:g.51067080dup	GRCh38
NC_000018.9:g.48593450dup , CM000680.1:g.48593450dup	GRCh37
NC_000018.8:g.46847448dup	NCBI36
NG_013013.2:g.104041dup , LRG_318:g.104041dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1201dup	ENSP00000465878.2:p.Cys401LeufsTer3
ENST00000589076.6:c.1201dup	ENSP00000466934.2:p.Cys401LeufsTer3
ENST00000589941.2:c.1201dup	ENSP00000465874.2:p.Cys401LeufsTer3
ENST00000590061.2:c.1201dup	ENSP00000464772.2:p.Cys401LeufsTer3
ENST00000593223.2:c.1201dup	ENSP00000466118.2:p.Cys401LeufsTer3
ENST00000611848.2:c.1201dup	ENSP00000478613.2:p.Cys401LeufsTer3
ENST00000684953.1:n.2573dup
ENST00000685090.1:n.1652dup
ENST00000685232.1:n.1309dup
ENST00000688574.1:n.1309dup
ENST00000691124.1:n.2683dup
ENST00000342988.8:c.1201dup MANE Select	ENSP00000341551.3:p.Cys401LeufsTer3
ENST00000342988.7:c.1201dup	ENSP00000341551.3:p.Cys401LeufsTer3
ENST00000398417.6:c.1201dup	ENSP00000381452.1:p.Cys401LeufsTer3
ENST00000588745.5:c.913dup	ENSP00000464901.1:p.Cys305LeufsTer3
ENST00000590499.1:n.259dup
ENST00000591126.5:n.3202dup
ENST00000592186.5:c.955+7164dup	ENSP00000468611.1:n.955+7164dup
ENST00000611848.1:c.401dup
NM_005359.5:c.1201dup , LRG_318t1:c.1201dup	NP_005350.1:p.Cys401LeufsTer3
NM_005359.6:c.1201dup MANE Select	NP_005350.1:p.Cys401LeufsTer3