Canonical Allele Identifier: CA342624791

Gene: IL6R

Linked Data

• gnomAD v4: 1-154454490-C-A
• MyVariant Identifiers: chr1:g.154426966C>A (hg19) ; chr1:g.154454490C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154454490C>A , CM000663.2:g.154454490C>A	GRCh38
NC_000001.10:g.154426966C>A , CM000663.1:g.154426966C>A	GRCh37
NC_000001.9:g.152693590C>A	NCBI36
NG_012087.1:g.54298C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1069C>A MANE Select	ENSP00000357470.3:p.Gln357Lys
ENST00000344086.8:c.1066+4510C>A	ENSP00000340589.4:n.1066+4510C>A
ENST00000368485.7:c.1069C>A	ENSP00000357470.3:p.Gln357Lys
ENST00000502679.1:n.382C>A
ENST00000507256.1:n.267C>A
ENST00000515190.1:c.477C>A
NM_000565.3:c.1069C>A	NP_000556.1:p.Gln357Lys
NM_181359.2:c.1066+4510C>A	NP_852004.1:n.1066+4510C>A
XM_005245139.1:c.924+4510C>A	XP_005245196.1:n.924+4510C>A
XM_005245140.1:c.927C>A	XP_005245197.1:p.Cys309Ter
XM_006711298.1:c.1117C>A	XP_006711361.1:p.Gln373Lys
XM_006711299.2:c.1114+4510C>A	XP_006711362.1:n.1114+4510C>A
XM_005245139.2:c.924+4510C>A	XP_005245196.1:n.924+4510C>A
XM_005245140.3:c.927C>A	XP_005245197.1:p.Cys309Ter
XM_006711298.2:c.1117C>A	XP_006711361.1:p.Gln373Lys
XM_006711299.4:c.1114+4510C>A	XP_006711362.1:n.1114+4510C>A
XM_017001199.2:c.1216C>A	XP_016856688.1:p.Gln406Lys
XM_017001200.2:c.1168C>A	XP_016856689.1:p.Gln390Lys
XM_017001201.2:c.1026C>A	XP_016856690.1:p.Cys342Ter
NM_000565.4:c.1069C>A MANE Select	NP_000556.1:p.Gln357Lys
NM_181359.3:c.1066+4510C>A	NP_852004.1:n.1066+4510C>A
NM_001382769.1:c.1168C>A	NP_001369698.1:p.Gln390Lys
NM_001382770.1:c.1162C>A	NP_001369699.1:p.Gln388Lys
NM_001382771.1:c.1117C>A	NP_001369700.1:p.Gln373Lys
NM_001382772.1:c.1063C>A	NP_001369701.1:p.Gln355Lys
NM_001382773.1:c.1114+4510C>A	NP_001369702.1:n.1114+4510C>A
NM_001382774.1:c.709C>A	NP_001369703.1:p.Gln237Lys