Canonical Allele Identifier: CA420975566
Gene: IL6R HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.154426968A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154454492A>G , CM000663.2:g.154454492A>G GRCh38
NC_000001.10:g.154426968A>G , CM000663.1:g.154426968A>G GRCh37
NC_000001.9:g.152693592A>G NCBI36
NG_012087.1:g.54300A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368485.8:c.1071A>G MANE Select ENSP00000357470.3:p.Gln357=
ENST00000344086.8:c.1066+4512A>G ENSP00000340589.4:n.1066+4512A>G
ENST00000368485.7:c.1071A>G ENSP00000357470.3:p.Gln357=
ENST00000502679.1:n.384A>G
ENST00000507256.1:n.269A>G
ENST00000515190.1:c.479A>G
NM_000565.3:c.1071A>G NP_000556.1:p.Gln357=
NM_181359.2:c.1066+4512A>G NP_852004.1:n.1066+4512A>G
XM_005245139.1:c.924+4512A>G XP_005245196.1:n.924+4512A>G
XM_005245140.1:c.929A>G XP_005245197.1:p.Lys310Arg
XM_006711298.1:c.1119A>G XP_006711361.1:p.Gln373=
XM_006711299.2:c.1114+4512A>G XP_006711362.1:n.1114+4512A>G
XM_005245139.2:c.924+4512A>G XP_005245196.1:n.924+4512A>G
XM_005245140.3:c.929A>G XP_005245197.1:p.Lys310Arg
XM_006711298.2:c.1119A>G XP_006711361.1:p.Gln373=
XM_006711299.4:c.1114+4512A>G XP_006711362.1:n.1114+4512A>G
XM_017001199.2:c.1218A>G XP_016856688.1:p.Gln406=
XM_017001200.2:c.1170A>G XP_016856689.1:p.Gln390=
XM_017001201.2:c.1028A>G XP_016856690.1:p.Lys343Arg
NM_000565.4:c.1071A>G MANE Select NP_000556.1:p.Gln357=
NM_181359.3:c.1066+4512A>G NP_852004.1:n.1066+4512A>G
NM_001382769.1:c.1170A>G NP_001369698.1:p.Gln390=
NM_001382770.1:c.1164A>G NP_001369699.1:p.Gln388=
NM_001382771.1:c.1119A>G NP_001369700.1:p.Gln373=
NM_001382772.1:c.1065A>G NP_001369701.1:p.Gln355=
NM_001382773.1:c.1114+4512A>G NP_001369702.1:n.1114+4512A>G
NM_001382774.1:c.711A>G NP_001369703.1:p.Gln237=