Canonical Allele Identifier: CA1129337
Gene: IL6R HGNC NCBI

Linked Data

dbSNP Id: rs775278680

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154465256T>C , CM000663.2:g.154465256T>C GRCh38
NC_000001.10:g.154437732T>C , CM000663.1:g.154437732T>C GRCh37
NC_000001.9:g.152704356T>C NCBI36
NG_012087.1:g.65064T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368485.8:c.1283T>C MANE Select ENSP00000357470.3:p.Ile428Thr
ENST00000344086.8:c.*91T>C ENSP00000340589.4:n.*91T>C
ENST00000368485.7:c.1283T>C ENSP00000357470.3:p.Ile428Thr
ENST00000507256.1:n.481T>C
NM_000565.3:c.1283T>C NP_000556.1:p.Ile428Thr
NM_181359.2:c.*91T>C NP_852004.1:n.*91T>C
XM_005245139.1:c.1047T>C XP_005245196.1:p.His349=
XM_005245140.1:c.*124T>C XP_005245197.1:n.*124T>C
XM_006711298.1:c.1331T>C XP_006711361.1:p.Ile444Thr
XM_005245139.2:c.1047T>C XP_005245196.1:p.His349=
XM_005245140.3:c.*124T>C XP_005245197.1:n.*124T>C
XM_006711298.2:c.1331T>C XP_006711361.1:p.Ile444Thr
XM_017001199.2:c.1430T>C XP_016856688.1:p.Ile477Thr
XM_017001200.2:c.1382T>C XP_016856689.1:p.Ile461Thr
XM_017001201.2:c.*124T>C XP_016856690.1:n.*124T>C
NM_000565.4:c.1283T>C MANE Select NP_000556.1:p.Ile428Thr
NM_181359.3:c.*91T>C NP_852004.1:n.*91T>C
NM_001382769.1:c.1382T>C NP_001369698.1:p.Ile461Thr
NM_001382770.1:c.1376T>C NP_001369699.1:p.Ile459Thr
NM_001382771.1:c.1331T>C NP_001369700.1:p.Ile444Thr
NM_001382772.1:c.1277T>C NP_001369701.1:p.Ile426Thr
NM_001382773.1:c.*91T>C NP_001369702.1:n.*91T>C
NM_001382774.1:c.923T>C NP_001369703.1:p.Ile308Thr