Canonical Allele Identifier: CA1129267

Gene: IL6R

Linked Data

• dbSNP Id: rs113751503
• ExAC: 1:154426964 T / C
• gnomAD v4: 1-154454488-T-C
• MyVariant Identifiers: chr1:g.154426964T>C (hg19) ; chr1:g.154454488T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154454488T>C , CM000663.2:g.154454488T>C	GRCh38
NC_000001.10:g.154426964T>C , CM000663.1:g.154426964T>C	GRCh37
NC_000001.9:g.152693588T>C	NCBI36
NG_012087.1:g.54296T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1067T>C MANE Select	ENSP00000357470.3:p.Val356Ala
ENST00000344086.8:c.1066+4508T>C	ENSP00000340589.4:n.1066+4508T>C
ENST00000368485.7:c.1067T>C	ENSP00000357470.3:p.Val356Ala
ENST00000502679.1:n.380T>C
ENST00000507256.1:n.265T>C
ENST00000515190.1:c.475T>C
NM_000565.3:c.1067T>C	NP_000556.1:p.Val356Ala
NM_181359.2:c.1066+4508T>C	NP_852004.1:n.1066+4508T>C
XM_005245139.1:c.924+4508T>C	XP_005245196.1:n.924+4508T>C
XM_005245140.1:c.925T>C	XP_005245197.1:p.Cys309Arg
XM_006711298.1:c.1115T>C	XP_006711361.1:p.Val372Ala
XM_006711299.2:c.1114+4508T>C	XP_006711362.1:n.1114+4508T>C
XM_005245139.2:c.924+4508T>C	XP_005245196.1:n.924+4508T>C
XM_005245140.3:c.925T>C	XP_005245197.1:p.Cys309Arg
XM_006711298.2:c.1115T>C	XP_006711361.1:p.Val372Ala
XM_006711299.4:c.1114+4508T>C	XP_006711362.1:n.1114+4508T>C
XM_017001199.2:c.1214T>C	XP_016856688.1:p.Met405Thr
XM_017001200.2:c.1166T>C	XP_016856689.1:p.Met389Thr
XM_017001201.2:c.1024T>C	XP_016856690.1:p.Cys342Arg
NM_000565.4:c.1067T>C MANE Select	NP_000556.1:p.Val356Ala
NM_181359.3:c.1066+4508T>C	NP_852004.1:n.1066+4508T>C
NM_001382769.1:c.1166T>C	NP_001369698.1:p.Met389Thr
NM_001382770.1:c.1160T>C	NP_001369699.1:p.Val387Ala
NM_001382771.1:c.1115T>C	NP_001369700.1:p.Val372Ala
NM_001382772.1:c.1061T>C	NP_001369701.1:p.Val354Ala
NM_001382773.1:c.1114+4508T>C	NP_001369702.1:n.1114+4508T>C
NM_001382774.1:c.707T>C	NP_001369703.1:p.Val236Ala