Canonical Allele Identifier: CA900046

Gene: IL23R

Linked Data

• ClinVar Variation Id: 1425047
• ClinVar RCV Id: RCV001924231
• dbSNP Id: rs113943721
• ExAC: 1:67724610 A / G
• gnomAD v2: 1-67724610-A-G
• gnomAD v3: 1-67258927-A-G
• gnomAD v4: 1-67258927-A-G
• MyVariant Identifiers: chr1:g.67724610A>G (hg19) ; chr1:g.67258927A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67258927A>G , CM000663.2:g.67258927A>G	GRCh38
NC_000001.10:g.67724610A>G , CM000663.1:g.67724610A>G	GRCh37
NC_000001.9:g.67497198A>G	NCBI36
NG_011498.1:g.97442A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697149.1:c.1528A>G	ENSP00000513138.1:n.1528A>G
ENST00000697150.1:c.1586A>G	ENSP00000513139.1:n.1586A>G
ENST00000697151.1:c.1519A>G	ENSP00000513140.1:n.1519A>G
ENST00000697164.1:c.1599A>G	ENSP00000513153.1:p.Ile533Met
ENST00000697165.1:c.1386A>G	ENSP00000513154.1:p.Ile462Met
ENST00000347310.10:c.1689A>G MANE Select	ENSP00000321345.5:p.Ile563Met
ENST00000637002.1:c.1080A>G	ENSP00000490340.1:p.Ile360Met
ENST00000347310.9:c.1689A>G	ENSP00000321345.5:p.Ile563Met
ENST00000395227.2:c.483A>G	ENSP00000378652.2:p.Ile161Met
ENST00000425614.3:c.924A>G	ENSP00000387640.2:p.Ile308Met
ENST00000473881.2:c.*515A>G	ENSP00000486667.1:n.*515A>G
NM_144701.2:c.1689A>G	NP_653302.2:p.Ile563Met
XM_005270516.2:c.927A>G	XP_005270573.1:p.Ile309Met
XM_011540789.1:c.1779A>G	XP_011539091.1:p.Ile593Met
XM_011540790.1:c.1689A>G	XP_011539092.1:p.Ile563Met
XM_011540791.1:c.1689A>G	XP_011539093.1:p.Ile563Met
XM_011540790.3:c.1689A>G	XP_011539092.1:p.Ile563Met
XM_011540791.3:c.1689A>G	XP_011539093.1:p.Ile563Met
XR_001736993.1:n.1769A>G
NM_144701.3:c.1689A>G MANE Select	NP_653302.2:p.Ile563Met