Canonical Allele Identifier: CA340729572

Gene: IL23R

Linked Data

• dbSNP Id: rs1349677894
• gnomAD v4: 1-67259010-C-T
• MyVariant Identifiers: chr1:g.67724693C>T (hg19) ; chr1:g.67259010C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.67259010C>T , CM000663.2:g.67259010C>T	GRCh38
NC_000001.10:g.67724693C>T , CM000663.1:g.67724693C>T	GRCh37
NC_000001.9:g.67497281C>T	NCBI36
NG_011498.1:g.97525C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697149.1:c.1611C>T	ENSP00000513138.1:n.1611C>T
ENST00000697150.1:c.1669C>T	ENSP00000513139.1:n.1669C>T
ENST00000697151.1:c.1602C>T	ENSP00000513140.1:n.1602C>T
ENST00000697164.1:c.1682C>T	ENSP00000513153.1:p.Pro561Leu
ENST00000697165.1:c.1469C>T	ENSP00000513154.1:p.Pro490Leu
ENST00000347310.10:c.1772C>T MANE Select	ENSP00000321345.5:p.Pro591Leu
ENST00000637002.1:c.1163C>T	ENSP00000490340.1:p.Pro388Leu
ENST00000347310.9:c.1772C>T	ENSP00000321345.5:p.Pro591Leu
ENST00000395227.2:c.566C>T	ENSP00000378652.2:p.Pro189Leu
ENST00000425614.3:c.1007C>T	ENSP00000387640.2:p.Pro336Leu
ENST00000473881.2:c.*598C>T	ENSP00000486667.1:n.*598C>T
NM_144701.2:c.1772C>T	NP_653302.2:p.Pro591Leu
XM_005270516.2:c.1010C>T	XP_005270573.1:p.Pro337Leu
XM_011540789.1:c.1862C>T	XP_011539091.1:p.Pro621Leu
XM_011540790.1:c.1772C>T	XP_011539092.1:p.Pro591Leu
XM_011540791.1:c.1772C>T	XP_011539093.1:p.Pro591Leu
XM_011540790.3:c.1772C>T	XP_011539092.1:p.Pro591Leu
XM_011540791.3:c.1772C>T	XP_011539093.1:p.Pro591Leu
XR_001736993.1:n.1852C>T
NM_144701.3:c.1772C>T MANE Select	NP_653302.2:p.Pro591Leu