Canonical Allele Identifier: CA340728787

Gene: IL23R

Linked Data

• dbSNP Id: rs1466901710
• gnomAD v2: 1-67724510-T-G
• MyVariant Identifiers: chr1:g.67724510T>G (hg19) ; chr1:g.67258827T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67258827T>G , CM000663.2:g.67258827T>G	GRCh38
NC_000001.10:g.67724510T>G , CM000663.1:g.67724510T>G	GRCh37
NC_000001.9:g.67497098T>G	NCBI36
NG_011498.1:g.97342T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697149.1:c.1428T>G	ENSP00000513138.1:n.1428T>G
ENST00000697150.1:c.1486T>G	ENSP00000513139.1:n.1486T>G
ENST00000697151.1:c.1419T>G	ENSP00000513140.1:n.1419T>G
ENST00000697164.1:c.1499T>G	ENSP00000513153.1:p.Phe500Cys
ENST00000697165.1:c.1286T>G	ENSP00000513154.1:p.Phe429Cys
ENST00000347310.10:c.1589T>G MANE Select	ENSP00000321345.5:p.Phe530Cys
ENST00000637002.1:c.980T>G	ENSP00000490340.1:p.Phe327Cys
ENST00000347310.9:c.1589T>G	ENSP00000321345.5:p.Phe530Cys
ENST00000395227.2:c.383T>G	ENSP00000378652.2:p.Phe128Cys
ENST00000425614.3:c.824T>G	ENSP00000387640.2:p.Phe275Cys
ENST00000473881.2:c.*415T>G	ENSP00000486667.1:n.*415T>G
NM_144701.2:c.1589T>G	NP_653302.2:p.Phe530Cys
XM_005270516.2:c.827T>G	XP_005270573.1:p.Phe276Cys
XM_011540789.1:c.1679T>G	XP_011539091.1:p.Phe560Cys
XM_011540790.1:c.1589T>G	XP_011539092.1:p.Phe530Cys
XM_011540791.1:c.1589T>G	XP_011539093.1:p.Phe530Cys
XM_011540790.3:c.1589T>G	XP_011539092.1:p.Phe530Cys
XM_011540791.3:c.1589T>G	XP_011539093.1:p.Phe530Cys
XR_001736993.1:n.1669T>G
NM_144701.3:c.1589T>G MANE Select	NP_653302.2:p.Phe530Cys