Canonical Allele Identifier: CA8965978

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 460522
• ClinVar RCV Id: RCV000555938 ; RCV001017112 ; RCV001764550 ; RCV002231351 ; RCV002319529 ; RCV004003803
• dbSNP Id: rs747360831
• ExAC: 18:48591876 A / G
• gnomAD v2: 18-48591876-A-G
• gnomAD v3: 18-51065506-A-G
• gnomAD v4: 18-51065506-A-G
• MyVariant Identifiers: chr18:g.48591876A>G (hg19) ; chr18:g.51065506A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51065506A>G , CM000680.2:g.51065506A>G	GRCh38
NC_000018.9:g.48591876A>G , CM000680.1:g.48591876A>G	GRCh37
NC_000018.8:g.46845874A>G	NCBI36
NG_013013.2:g.102467A>G , LRG_318:g.102467A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.1039A>G	ENSP00000465878.2:p.Ile347Val
ENST00000589076.6:c.1039A>G	ENSP00000466934.2:p.Ile347Val
ENST00000589941.2:c.1039A>G	ENSP00000465874.2:p.Ile347Val
ENST00000590061.2:c.1039A>G	ENSP00000464772.2:p.Ile347Val
ENST00000593223.2:c.1039A>G	ENSP00000466118.2:p.Ile347Val
ENST00000611848.2:c.1039A>G	ENSP00000478613.2:p.Ile347Val
ENST00000684953.1:n.2411A>G
ENST00000685090.1:n.1490A>G
ENST00000685232.1:n.1147A>G
ENST00000688307.1:n.290A>G
ENST00000688574.1:n.1147A>G
ENST00000688903.1:n.1253A>G
ENST00000691124.1:n.2521A>G
ENST00000342988.8:c.1039A>G MANE Select	ENSP00000341551.3:p.Ile347Val
ENST00000342988.7:c.1039A>G	ENSP00000341551.3:p.Ile347Val
ENST00000398417.6:c.1039A>G	ENSP00000381452.1:p.Ile347Val
ENST00000588745.5:c.751A>G	ENSP00000464901.1:p.Ile251Val
ENST00000591126.5:n.3040A>G
ENST00000592186.5:c.955+5590A>G	ENSP00000468611.1:n.955+5590A>G
ENST00000611848.1:c.239A>G
NM_005359.5:c.1039A>G , LRG_318t1:c.1039A>G	NP_005350.1:p.Ile347Val
NM_005359.6:c.1039A>G MANE Select	NP_005350.1:p.Ile347Val