Linked Data
ClinVar Variation Id:
1167634
ClinVar RCV Id:
RCV001517127
dbSNP Id:
rs76418789
ExAC:
1:67648596 G / A
gnomAD v2:
1-67648596-G-A
gnomAD v3:
1-67182913-G-A
gnomAD v4:
1-67182913-G-A
COSMIC:
COSM4165292
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67182913G>A , CM000663.2:g.67182913G>A | GRCh38 |
| NC_000001.10:g.67648596G>A , CM000663.1:g.67648596G>A | GRCh37 |
| NC_000001.9:g.67421184G>A | NCBI36 |
| NG_011498.1:g.21428G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697148.1:c.367+13275G>A (IL23R) | ENSP00000513137.1:n.367+13275G>A | |
| ENST00000697149.1:c.445G>A (IL23R) | ENSP00000513138.1:p.Gly149Arg | |
| ENST00000697150.1:c.445G>A (IL23R) | ENSP00000513139.1:p.Gly149Arg | |
| ENST00000697151.1:c.445G>A (IL23R) | ENSP00000513140.1:p.Gly149Arg | |
| ENST00000697152.1:c.445G>A (IL23R) | ENSP00000513141.1:p.Gly149Arg | |
| ENST00000697153.1:c.445G>A (IL23R) | ENSP00000513142.1:p.Gly149Arg | |
| ENST00000697154.1:c.445G>A (IL23R) | ENSP00000513143.1:p.Gly149Arg | |
| ENST00000697155.1:c.445G>A (IL23R) | ENSP00000513144.1:p.Gly149Arg | |
| ENST00000697156.1:c.445G>A (IL23R) | ENSP00000513145.1:p.Gly149Arg | |
| ENST00000697157.1:c.445G>A (IL23R) | ENSP00000513146.1:p.Gly149Arg | |
| ENST00000697158.1:c.445G>A (IL23R) | ENSP00000513147.1:p.Gly149Arg | |
| ENST00000697159.1:c.445G>A (IL23R) | ENSP00000513148.1:p.Gly149Arg | |
| ENST00000697160.1:c.445G>A (IL23R) | ENSP00000513149.1:p.Gly149Arg | |
| ENST00000697161.1:c.445G>A (IL23R) | ENSP00000513150.1:p.Gly149Arg | |
| ENST00000697162.1:c.445G>A (IL23R) | ENSP00000513151.1:p.Gly149Arg | |
| ENST00000697163.1:c.445G>A (IL23R) | ENSP00000513152.1:p.Gly149Arg | |
| ENST00000697164.1:c.445G>A (IL23R) | ENSP00000513153.1:p.Gly149Arg | |
| ENST00000697165.1:c.445G>A (IL23R) | ENSP00000513154.1:p.Gly149Arg | |
| ENST00000697223.1:c.445G>A (IL23R) | ENSP00000513190.1:p.Gly149Arg | |
| ENST00000697224.1:c.445G>A (IL23R) | ENSP00000513191.1:p.Gly149Arg | |
| ENST00000697225.1:c.445G>A (IL23R) | ENSP00000513192.1:p.Gly149Arg | |
| ENST00000697226.1:c.445G>A (IL23R) | ENSP00000513193.1:p.Gly149Arg | |
| ENST00000697227.1:c.445G>A (IL23R) | ENSP00000513194.1:p.Gly149Arg | |
| ENST00000697228.1:c.445G>A (IL23R) | ENSP00000513195.1:p.Gly149Arg | |
| ENST00000697229.1:c.445G>A (IL23R) | ENSP00000513196.1:p.Gly149Arg | |
| ENST00000697230.1:c.445G>A (IL23R) | ENSP00000513197.1:p.Gly149Arg | |
| ENST00000697231.1:c.445G>A (IL23R) | ENSP00000513198.1:p.Gly149Arg | |
| ENST00000697232.1:c.445G>A (IL23R) | ENSP00000513199.1:p.Gly149Arg | |
| ENST00000347310.10:c.445G>A (IL23R) MANE Select | ENSP00000321345.5:p.Gly149Arg | |
| ENST00000637002.1:c.-160G>A (IL23R) | ENSP00000490340.1:n.-160G>A | |
| ENST00000347310.9:c.445G>A (IL23R) | ENSP00000321345.5:p.Gly149Arg | |
| ENST00000371007.6:c.-104+48933C>T (C1orf141) | ENSP00000360046.1:n.-104+48933C>T | |
| ENST00000448166.6:c.-104+48933C>T (C1orf141) | ENSP00000415519.2:n.-104+48933C>T | |
| NM_144701.2:c.445G>A (IL23R) | NP_653302.2:p.Gly149Arg | |
| XM_005270516.2:c.-157G>A (IL23R) | XP_005270573.1:n.-157G>A | |
| XM_011540789.1:c.535G>A (IL23R) | XP_011539091.1:p.Gly179Arg | |
| XM_011540790.1:c.445G>A (IL23R) | XP_011539092.1:p.Gly149Arg | |
| XM_011540791.1:c.445G>A (IL23R) | XP_011539093.1:p.Gly149Arg | |
| XM_011540790.3:c.445G>A (IL23R) | XP_011539092.1:p.Gly149Arg | |
| XM_011540791.3:c.445G>A (IL23R) | XP_011539093.1:p.Gly149Arg | |
| XR_001736993.1:n.628G>A (IL23R) | ||
| NM_144701.3:c.445G>A (IL23R) MANE Select | NP_653302.2:p.Gly149Arg |