Canonical Allele Identifier: CA2580095829

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 2431265
• ClinVar RCV Id: RCV003140325

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51078360dup , CM000680.2:g.51078360dup	GRCh38
NC_000018.9:g.48604730dup , CM000680.1:g.48604730dup	GRCh37
NC_000018.8:g.46858728dup	NCBI36
NG_013013.2:g.115321dup , LRG_318:g.115321dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1552dup	ENSP00000465878.2:p.Ile518AsnfsTer9
ENST00000589076.6:c.1552dup	ENSP00000466934.2:p.Ile518AsnfsTer9
ENST00000589941.2:c.1552dup	ENSP00000465874.2:p.Ile518AsnfsTer9
ENST00000590061.2:c.1552dup	ENSP00000464772.2:p.Ile518AsnfsTer9
ENST00000593223.2:c.*1549dup	ENSP00000466118.2:n.*1549dup
ENST00000611848.2:c.*204dup	ENSP00000478613.2:n.*204dup
ENST00000684953.1:n.3567dup
ENST00000685090.1:n.3482dup
ENST00000685232.1:n.1773dup
ENST00000688574.1:n.1660dup
ENST00000691124.1:n.4513dup
ENST00000342988.8:c.1552dup MANE Select	ENSP00000341551.3:p.Ile518AsnfsTer9
ENST00000342988.7:c.1552dup	ENSP00000341551.3:p.Ile518AsnfsTer9
ENST00000398417.6:c.1552dup	ENSP00000381452.1:p.Ile518AsnfsTer9
ENST00000586253.1:n.274dup
ENST00000588745.5:c.1264dup	ENSP00000464901.1:p.Ile422AsnfsTer9
ENST00000591126.5:n.3553dup
ENST00000592186.5:c.1199dup	ENSP00000468611.1:n.1199dup
ENST00000611848.1:c.865dup
NM_005359.5:c.1552dup , LRG_318t1:c.1552dup	NP_005350.1:p.Ile518AsnfsTer9
NM_005359.6:c.1552dup MANE Select	NP_005350.1:p.Ile518AsnfsTer9