Canonical Allele Identifier: CA1129219

Gene: IL6R

Linked Data

• dbSNP Id: rs745567939
• ExAC: 1:154420640 C / A
• gnomAD v4: 1-154448164-C-A
• MyVariant Identifiers: chr1:g.154420640C>A (hg19) ; chr1:g.154448164C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154448164C>A , CM000663.2:g.154448164C>A	GRCh38
NC_000001.10:g.154420640C>A , CM000663.1:g.154420640C>A	GRCh37
NC_000001.9:g.152687264C>A	NCBI36
NG_012087.1:g.47972C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.989C>A MANE Select	ENSP00000357470.3:p.Pro330His
ENST00000344086.8:c.989C>A	ENSP00000340589.4:p.Pro330His
ENST00000368485.7:c.989C>A	ENSP00000357470.3:p.Pro330His
ENST00000476006.5:c.805C>A
ENST00000507256.1:n.187C>A
ENST00000515190.1:c.397C>A
NM_000565.3:c.989C>A	NP_000556.1:p.Pro330His
NM_181359.2:c.989C>A	NP_852004.1:p.Pro330His
XM_005245139.1:c.847C>A	XP_005245196.1:p.Pro283Thr
XM_005245140.1:c.847C>A	XP_005245197.1:p.Pro283Thr
XM_006711298.1:c.1037C>A	XP_006711361.1:p.Pro346His
XM_006711299.2:c.1037C>A	XP_006711362.1:p.Pro346His
XM_005245139.2:c.847C>A	XP_005245196.1:p.Pro283Thr
XM_005245140.3:c.847C>A	XP_005245197.1:p.Pro283Thr
XM_006711298.2:c.1037C>A	XP_006711361.1:p.Pro346His
XM_006711299.4:c.1037C>A	XP_006711362.1:p.Pro346His
XM_017001199.2:c.1037C>A	XP_016856688.1:p.Pro346His
XM_017001200.2:c.989C>A	XP_016856689.1:p.Pro330His
XM_017001201.2:c.847C>A	XP_016856690.1:p.Pro283Thr
NM_000565.4:c.989C>A MANE Select	NP_000556.1:p.Pro330His
NM_181359.3:c.989C>A	NP_852004.1:p.Pro330His
NM_001382769.1:c.989C>A	NP_001369698.1:p.Pro330His
NM_001382770.1:c.1082C>A	NP_001369699.1:p.Pro361His
NM_001382771.1:c.1037C>A	NP_001369700.1:p.Pro346His
NM_001382772.1:c.983C>A	NP_001369701.1:p.Pro328His
NM_001382773.1:c.1037C>A	NP_001369702.1:p.Pro346His
NM_001382774.1:c.629C>A	NP_001369703.1:p.Pro210His