Canonical Allele Identifier: CA899931

Gene: IL23R

Linked Data

• ClinVar Variation Id: 2902889
• ClinVar RCV Id: RCV003733986
• dbSNP Id: rs754093485
• ExAC: 1:67705877 T / C
• gnomAD v2: 1-67705877-T-C
• gnomAD v4: 1-67240194-T-C
• MyVariant Identifiers: chr1:g.67705877T>C (hg19) ; chr1:g.67240194T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67240194T>C , CM000663.2:g.67240194T>C	GRCh38
NC_000001.10:g.67705877T>C , CM000663.1:g.67705877T>C	GRCh37
NC_000001.9:g.67478465T>C	NCBI36
NG_011498.1:g.78709T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697148.1:c.937T>C	ENSP00000513137.1:n.937T>C
ENST00000697149.1:c.900T>C	ENSP00000513138.1:n.900T>C
ENST00000697150.1:c.1045+3392T>C	ENSP00000513139.1:n.1045+3392T>C
ENST00000697151.1:c.1045+3392T>C	ENSP00000513140.1:n.1045+3392T>C
ENST00000697152.1:c.799-15643T>C	ENSP00000513141.1:n.799-15643T>C
ENST00000697153.1:c.795-15643T>C	ENSP00000513142.1:n.795-15643T>C
ENST00000697154.1:c.956-18284T>C	ENSP00000513143.1:n.956-18284T>C
ENST00000697155.1:c.649-18284T>C	ENSP00000513144.1:n.649-18284T>C
ENST00000697156.1:c.1061T>C	ENSP00000513145.1:p.Ile354Thr
ENST00000697157.1:c.915T>C	ENSP00000513146.1:n.915T>C
ENST00000697158.1:c.904T>C	ENSP00000513147.1:n.904T>C
ENST00000697159.1:c.754T>C	ENSP00000513148.1:n.754T>C
ENST00000697160.1:c.956-15643T>C	ENSP00000513149.1:n.956-15643T>C
ENST00000697161.1:c.597T>C	ENSP00000513150.1:n.597T>C
ENST00000697162.1:c.990T>C	ENSP00000513151.1:n.990T>C
ENST00000697163.1:c.1061T>C	ENSP00000513152.1:p.Ile354Thr
ENST00000697164.1:c.971T>C	ENSP00000513153.1:p.Ile324Thr
ENST00000697165.1:c.758T>C	ENSP00000513154.1:p.Ile253Thr
ENST00000697223.1:c.810T>C	ENSP00000513190.1:n.810T>C
ENST00000697224.1:c.884+3392T>C	ENSP00000513191.1:n.884+3392T>C
ENST00000697225.1:c.664T>C	ENSP00000513192.1:n.664T>C
ENST00000697226.1:c.738+3392T>C	ENSP00000513193.1:n.738+3392T>C
ENST00000697227.1:c.897T>C	ENSP00000513194.1:n.897T>C
ENST00000697228.1:c.753T>C	ENSP00000513195.1:n.753T>C
ENST00000697229.1:c.885-15643T>C	ENSP00000513196.1:n.885-15643T>C
ENST00000697230.1:c.971T>C	ENSP00000513197.1:p.Ile324Thr
ENST00000697231.1:c.966T>C	ENSP00000513198.1:n.966T>C
ENST00000697232.1:c.990T>C	ENSP00000513199.1:n.990T>C
ENST00000347310.10:c.1061T>C MANE Select	ENSP00000321345.5:p.Ile354Thr
ENST00000637002.1:c.452T>C	ENSP00000490340.1:p.Ile151Thr
ENST00000347310.9:c.1061T>C	ENSP00000321345.5:p.Ile354Thr
ENST00000395227.2:c.-58-15643T>C	ENSP00000378652.2:n.-58-15643T>C
ENST00000425614.3:c.296T>C	ENSP00000387640.2:p.Ile99Thr
ENST00000473881.2:c.191-15643T>C	ENSP00000486667.1:n.191-15643T>C
NM_144701.2:c.1061T>C	NP_653302.2:p.Ile354Thr
XM_005270516.2:c.299T>C	XP_005270573.1:p.Ile100Thr
XM_011540789.1:c.1151T>C	XP_011539091.1:p.Ile384Thr
XM_011540790.1:c.1061T>C	XP_011539092.1:p.Ile354Thr
XM_011540791.1:c.1061T>C	XP_011539093.1:p.Ile354Thr
XM_011540790.3:c.1061T>C	XP_011539092.1:p.Ile354Thr
XM_011540791.3:c.1061T>C	XP_011539093.1:p.Ile354Thr
XR_001736993.1:n.1228+3392T>C
NM_144701.3:c.1061T>C MANE Select	NP_653302.2:p.Ile354Thr