Canonical Allele Identifier: CA340729074

Gene: IL23R

Linked Data

• dbSNP Id: rs1653095922
• gnomAD v3: 1-67258889-C-T
• gnomAD v4: 1-67258889-C-T
• MyVariant Identifiers: chr1:g.67724572C>T (hg19) ; chr1:g.67258889C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67258889C>T , CM000663.2:g.67258889C>T	GRCh38
NC_000001.10:g.67724572C>T , CM000663.1:g.67724572C>T	GRCh37
NC_000001.9:g.67497160C>T	NCBI36
NG_011498.1:g.97404C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697149.1:c.1490C>T	ENSP00000513138.1:n.1490C>T
ENST00000697150.1:c.1548C>T	ENSP00000513139.1:n.1548C>T
ENST00000697151.1:c.1481C>T	ENSP00000513140.1:n.1481C>T
ENST00000697164.1:c.1561C>T	ENSP00000513153.1:p.Leu521Phe
ENST00000697165.1:c.1348C>T	ENSP00000513154.1:p.Leu450Phe
ENST00000347310.10:c.1651C>T MANE Select	ENSP00000321345.5:p.Leu551Phe
ENST00000637002.1:c.1042C>T	ENSP00000490340.1:p.Leu348Phe
ENST00000347310.9:c.1651C>T	ENSP00000321345.5:p.Leu551Phe
ENST00000395227.2:c.445C>T	ENSP00000378652.2:p.Leu149Phe
ENST00000425614.3:c.886C>T	ENSP00000387640.2:p.Leu296Phe
ENST00000473881.2:c.*477C>T	ENSP00000486667.1:n.*477C>T
NM_144701.2:c.1651C>T	NP_653302.2:p.Leu551Phe
XM_005270516.2:c.889C>T	XP_005270573.1:p.Leu297Phe
XM_011540789.1:c.1741C>T	XP_011539091.1:p.Leu581Phe
XM_011540790.1:c.1651C>T	XP_011539092.1:p.Leu551Phe
XM_011540791.1:c.1651C>T	XP_011539093.1:p.Leu551Phe
XM_011540790.3:c.1651C>T	XP_011539092.1:p.Leu551Phe
XM_011540791.3:c.1651C>T	XP_011539093.1:p.Leu551Phe
XR_001736993.1:n.1731C>T
NM_144701.3:c.1651C>T MANE Select	NP_653302.2:p.Leu551Phe