Canonical Allele Identifier: CA418438705
Gene: IL23R HGNC NCBI

Linked Data

ClinVar Variation Id: 2835898
ClinVar RCV Id: RCV003687394
MyVariant Identifiers: chr1:g.67724475A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.67258792A>T , CM000663.2:g.67258792A>T GRCh38
NC_000001.10:g.67724475A>T , CM000663.1:g.67724475A>T GRCh37
NC_000001.9:g.67497063A>T NCBI36
NG_011498.1:g.97307A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697149.1:c.1393A>T ENSP00000513138.1:n.1393A>T
ENST00000697150.1:c.1451A>T ENSP00000513139.1:n.1451A>T
ENST00000697151.1:c.1384A>T ENSP00000513140.1:n.1384A>T
ENST00000697164.1:c.1464A>T ENSP00000513153.1:p.Ser488=
ENST00000697165.1:c.1251A>T ENSP00000513154.1:p.Ser417=
ENST00000347310.10:c.1554A>T MANE Select ENSP00000321345.5:p.Ser518=
ENST00000637002.1:c.945A>T ENSP00000490340.1:p.Ser315=
ENST00000347310.9:c.1554A>T ENSP00000321345.5:p.Ser518=
ENST00000395227.2:c.348A>T ENSP00000378652.2:p.Ser116=
ENST00000425614.3:c.789A>T ENSP00000387640.2:p.Ser263=
ENST00000473881.2:c.*380A>T ENSP00000486667.1:n.*380A>T
NM_144701.2:c.1554A>T NP_653302.2:p.Ser518=
XM_005270516.2:c.792A>T XP_005270573.1:p.Ser264=
XM_011540789.1:c.1644A>T XP_011539091.1:p.Ser548=
XM_011540790.1:c.1554A>T XP_011539092.1:p.Ser518=
XM_011540791.1:c.1554A>T XP_011539093.1:p.Ser518=
XM_011540790.3:c.1554A>T XP_011539092.1:p.Ser518=
XM_011540791.3:c.1554A>T XP_011539093.1:p.Ser518=
XR_001736993.1:n.1634A>T
NM_144701.3:c.1554A>T MANE Select NP_653302.2:p.Ser518=