Canonical Allele Identifier: CA116015
Gene: IL23R HGNC NCBI

Linked Data

ClinVar Variation Id: 3108
dbSNP Id: rs11209026
gnomAD v2: 1-67705958-G-A
gnomAD v3: 1-67240275-G-A
gnomAD v4: 1-67240275-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67240275G>A , CM000663.2:g.67240275G>A GRCh38
NC_000001.10:g.67705958G>A , CM000663.1:g.67705958G>A GRCh37
NC_000001.9:g.67478546G>A NCBI36
NG_011498.1:g.78790G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000697148.1:c.1018G>A ENSP00000513137.1:n.1018G>A
ENST00000697149.1:c.981G>A ENSP00000513138.1:n.981G>A
ENST00000697150.1:c.1045+3473G>A ENSP00000513139.1:n.1045+3473G>A
ENST00000697151.1:c.1045+3473G>A ENSP00000513140.1:n.1045+3473G>A
ENST00000697152.1:c.799-15562G>A ENSP00000513141.1:n.799-15562G>A
ENST00000697153.1:c.795-15562G>A ENSP00000513142.1:n.795-15562G>A
ENST00000697154.1:c.956-18203G>A ENSP00000513143.1:n.956-18203G>A
ENST00000697155.1:c.649-18203G>A ENSP00000513144.1:n.649-18203G>A
ENST00000697156.1:c.1142G>A ENSP00000513145.1:p.Arg381Gln
ENST00000697157.1:c.996G>A ENSP00000513146.1:n.996G>A
ENST00000697158.1:c.985G>A ENSP00000513147.1:n.985G>A
ENST00000697159.1:c.835G>A ENSP00000513148.1:n.835G>A
ENST00000697160.1:c.956-15562G>A ENSP00000513149.1:n.956-15562G>A
ENST00000697161.1:c.678G>A ENSP00000513150.1:n.678G>A
ENST00000697162.1:c.1071G>A ENSP00000513151.1:n.1071G>A
ENST00000697163.1:c.1142G>A ENSP00000513152.1:p.Arg381Gln
ENST00000697164.1:c.1052G>A ENSP00000513153.1:p.Arg351Gln
ENST00000697165.1:c.839G>A ENSP00000513154.1:p.Arg280Gln
ENST00000697223.1:c.891G>A ENSP00000513190.1:n.891G>A
ENST00000697224.1:c.884+3473G>A ENSP00000513191.1:n.884+3473G>A
ENST00000697225.1:c.745G>A ENSP00000513192.1:n.745G>A
ENST00000697226.1:c.738+3473G>A ENSP00000513193.1:n.738+3473G>A
ENST00000697227.1:c.978G>A ENSP00000513194.1:n.978G>A
ENST00000697228.1:c.834G>A ENSP00000513195.1:n.834G>A
ENST00000697229.1:c.885-15562G>A ENSP00000513196.1:n.885-15562G>A
ENST00000697230.1:c.1052G>A ENSP00000513197.1:p.Arg351Gln
ENST00000697231.1:c.1047G>A ENSP00000513198.1:n.1047G>A
ENST00000697232.1:c.1071G>A ENSP00000513199.1:n.1071G>A
ENST00000347310.10:c.1142G>A MANE Select ENSP00000321345.5:p.Arg381Gln
ENST00000637002.1:c.533G>A ENSP00000490340.1:p.Arg178Gln
ENST00000347310.9:c.1142G>A ENSP00000321345.5:p.Arg381Gln
ENST00000395227.2:c.-58-15562G>A ENSP00000378652.2:n.-58-15562G>A
ENST00000425614.3:c.377G>A ENSP00000387640.2:p.Arg126Gln
ENST00000473881.2:c.191-15562G>A ENSP00000486667.1:n.191-15562G>A
NM_144701.2:c.1142G>A NP_653302.2:p.Arg381Gln
XM_005270516.2:c.380G>A XP_005270573.1:p.Arg127Gln
XM_011540789.1:c.1232G>A XP_011539091.1:p.Arg411Gln
XM_011540790.1:c.1142G>A XP_011539092.1:p.Arg381Gln
XM_011540791.1:c.1142G>A XP_011539093.1:p.Arg381Gln
XM_011540790.3:c.1142G>A XP_011539092.1:p.Arg381Gln
XM_011540791.3:c.1142G>A XP_011539093.1:p.Arg381Gln
XR_001736993.1:n.1228+3473G>A
NM_144701.3:c.1142G>A MANE Select NP_653302.2:p.Arg381Gln