Canonical Allele Identifier: CA340729800

Gene: IL23R

Linked Data

• ClinVar Variation Id: 2775713
• ClinVar RCV Id: RCV003661208
• dbSNP Id: rs1468346338
• gnomAD v2: 1-67724749-A-G
• gnomAD v4: 1-67259066-A-G
• MyVariant Identifiers: chr1:g.67724749A>G (hg19) ; chr1:g.67259066A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67259066A>G , CM000663.2:g.67259066A>G	GRCh38
NC_000001.10:g.67724749A>G , CM000663.1:g.67724749A>G	GRCh37
NC_000001.9:g.67497337A>G	NCBI36
NG_011498.1:g.97581A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697149.1:c.1667A>G	ENSP00000513138.1:n.1667A>G
ENST00000697150.1:c.1725A>G	ENSP00000513139.1:n.1725A>G
ENST00000697151.1:c.1658A>G	ENSP00000513140.1:n.1658A>G
ENST00000697164.1:c.1738A>G	ENSP00000513153.1:p.Thr580Ala
ENST00000697165.1:c.1525A>G	ENSP00000513154.1:p.Thr509Ala
ENST00000347310.10:c.1828A>G MANE Select	ENSP00000321345.5:p.Thr610Ala
ENST00000637002.1:c.1219A>G	ENSP00000490340.1:p.Thr407Ala
ENST00000347310.9:c.1828A>G	ENSP00000321345.5:p.Thr610Ala
ENST00000395227.2:c.622A>G	ENSP00000378652.2:p.Thr208Ala
ENST00000425614.3:c.1063A>G	ENSP00000387640.2:p.Thr355Ala
ENST00000473881.2:c.*654A>G	ENSP00000486667.1:n.*654A>G
NM_144701.2:c.1828A>G	NP_653302.2:p.Thr610Ala
XM_005270516.2:c.1066A>G	XP_005270573.1:p.Thr356Ala
XM_011540789.1:c.1918A>G	XP_011539091.1:p.Thr640Ala
XM_011540790.1:c.1828A>G	XP_011539092.1:p.Thr610Ala
XM_011540791.1:c.1828A>G	XP_011539093.1:p.Thr610Ala
XM_011540790.3:c.1828A>G	XP_011539092.1:p.Thr610Ala
XM_011540791.3:c.1828A>G	XP_011539093.1:p.Thr610Ala
XR_001736993.1:n.1908A>G
NM_144701.3:c.1828A>G MANE Select	NP_653302.2:p.Thr610Ala