Canonical Allele Identifier: CA891844455

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 576856
• ClinVar RCV Id: RCV002406615 ; RCV002234107
• dbSNP Id: rs1568206602
• MyVariant Identifiers: chr18:g.48586270dup (hg19) ; chr18:g.51059900dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51059900dup , CM000680.2:g.51059900dup	GRCh38
NC_000018.9:g.48586270dup , CM000680.1:g.48586270dup	GRCh37
NC_000018.8:g.46840268dup	NCBI36
NG_013013.2:g.96861dup , LRG_318:g.96861dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.939dup	ENSP00000465878.2:p.Ile314HisfsTer8
ENST00000589076.6:c.939dup	ENSP00000466934.2:p.Ile314HisfsTer8
ENST00000589941.2:c.939dup	ENSP00000465874.2:p.Ile314HisfsTer8
ENST00000590061.2:c.939dup	ENSP00000464772.2:p.Ile314HisfsTer8
ENST00000593223.2:c.939dup	ENSP00000466118.2:p.Ile314HisfsTer8
ENST00000611848.2:c.939dup	ENSP00000478613.2:p.Ile314HisfsTer8
ENST00000684953.1:n.2311dup
ENST00000685090.1:n.1390dup
ENST00000685232.1:n.1047dup
ENST00000688307.1:n.190dup
ENST00000688574.1:n.1047dup
ENST00000688903.1:n.1153dup
ENST00000690892.1:n.1047dup
ENST00000342988.8:c.939dup MANE Select	ENSP00000341551.3:p.Ile314HisfsTer8
ENST00000342988.7:c.939dup	ENSP00000341551.3:p.Ile314HisfsTer8
ENST00000398417.6:c.939dup	ENSP00000381452.1:p.Ile314HisfsTer8
ENST00000588745.5:c.667+4907dup	ENSP00000464901.1:n.667+4907dup
ENST00000591126.5:n.2940dup
ENST00000592186.5:c.939dup	ENSP00000468611.1:p.Ile314HisfsTer?
ENST00000611848.1:c.139dup
NM_005359.5:c.939dup , LRG_318t1:c.939dup	NP_005350.1:p.Ile314HisfsTer8
NM_005359.6:c.939dup MANE Select	NP_005350.1:p.Ile314HisfsTer8