Canonical Allele Identifier: CA281533

Gene: SMAD4

Linked Data

• ClinVar Variation Id: 224026
• ClinVar RCV Id: RCV000209288
• dbSNP Id: rs9961921
• gnomAD v2: 18-48557752-G-A
• gnomAD v3: 18-51031382-G-A
• gnomAD v4: 18-51031382-G-A
• MyVariant Identifiers: chr18:g.48557752G>A (hg19) ; chr18:g.51031382G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.51031382G>A , CM000680.2:g.51031382G>A	GRCh38
NC_000018.9:g.48557752G>A , CM000680.1:g.48557752G>A	GRCh37
NC_000018.8:g.46811750G>A	NCBI36
NG_013013.2:g.68343G>A , LRG_318:g.68343G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588860.6:c.-128+2717G>A	ENSP00000465878.2:n.-128+2717G>A
ENST00000589076.6:c.-128+1106G>A	ENSP00000466934.2:n.-128+1106G>A
ENST00000589941.2:c.-293+759G>A	ENSP00000465874.2:n.-293+759G>A
ENST00000590061.2:c.-60+1106G>A	ENSP00000464772.2:n.-60+1106G>A
ENST00000593223.2:c.-128+759G>A	ENSP00000466118.2:n.-128+759G>A
ENST00000342988.8:c.-128+759G>A MANE Select	ENSP00000341551.3:n.-128+759G>A
ENST00000342988.7:c.-128+759G>A	ENSP00000341551.3:n.-128+759G>A
ENST00000398417.6:c.-128+1638G>A	ENSP00000381452.1:n.-128+1638G>A
ENST00000588256.1:n.335-15538G>A
ENST00000588860.5:c.-128+2717G>A	ENSP00000465878.1:n.-128+2717G>A
ENST00000589076.5:c.-128+1106G>A	ENSP00000466934.1:n.-128+1106G>A
ENST00000590061.1:c.-60+1106G>A	ENSP00000464772.1:n.-60+1106G>A
ENST00000590722.2:c.158-15538G>A	ENSP00000465737.1:n.158-15538G>A
ENST00000591914.5:c.-128+759G>A	ENSP00000466941.1:n.-128+759G>A
ENST00000592911.5:n.27+759G>A
NM_005359.5:c.-128+759G>A , LRG_318t1:c.-128+759G>A	NP_005350.1:n.-128+759G>A
NM_005359.6:c.-128+759G>A MANE Select	NP_005350.1:n.-128+759G>A