Canonical Allele Identifier: CA340730129

Gene: IL23R

Linked Data

• dbSNP Id: rs1234540068
• gnomAD v2: 1-67724798-T-G
• gnomAD v3: 1-67259115-T-G
• gnomAD v4: 1-67259115-T-G
• MyVariant Identifiers: chr1:g.67724798T>G (hg19) ; chr1:g.67259115T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67259115T>G , CM000663.2:g.67259115T>G	GRCh38
NC_000001.10:g.67724798T>G , CM000663.1:g.67724798T>G	GRCh37
NC_000001.9:g.67497386T>G	NCBI36
NG_011498.1:g.97630T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697149.1:c.1716T>G	ENSP00000513138.1:n.1716T>G
ENST00000697150.1:c.1774T>G	ENSP00000513139.1:n.1774T>G
ENST00000697151.1:c.1707T>G	ENSP00000513140.1:n.1707T>G
ENST00000697164.1:c.1787T>G	ENSP00000513153.1:p.Leu596Arg
ENST00000697165.1:c.1574T>G	ENSP00000513154.1:p.Leu525Arg
ENST00000347310.10:c.1877T>G MANE Select	ENSP00000321345.5:p.Leu626Arg
ENST00000637002.1:c.1268T>G	ENSP00000490340.1:p.Leu423Arg
ENST00000347310.9:c.1877T>G	ENSP00000321345.5:p.Leu626Arg
ENST00000395227.2:c.671T>G	ENSP00000378652.2:p.Leu224Arg
ENST00000425614.3:c.1112T>G	ENSP00000387640.2:p.Leu371Arg
ENST00000473881.2:c.*703T>G	ENSP00000486667.1:n.*703T>G
NM_144701.2:c.1877T>G	NP_653302.2:p.Leu626Arg
XM_005270516.2:c.1115T>G	XP_005270573.1:p.Leu372Arg
XM_011540789.1:c.1967T>G	XP_011539091.1:p.Leu656Arg
XM_011540790.1:c.1877T>G	XP_011539092.1:p.Leu626Arg
XM_011540791.1:c.1877T>G	XP_011539093.1:p.Leu626Arg
XM_011540790.3:c.1877T>G	XP_011539092.1:p.Leu626Arg
XM_011540791.3:c.1877T>G	XP_011539093.1:p.Leu626Arg
XR_001736993.1:n.1957T>G
NM_144701.3:c.1877T>G MANE Select	NP_653302.2:p.Leu626Arg