Canonical Allele Identifier: CA342628231

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437616G>C (hg19) ; chr1:g.154465140G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465140G>C , CM000663.2:g.154465140G>C	GRCh38
NC_000001.10:g.154437616G>C , CM000663.1:g.154437616G>C	GRCh37
NC_000001.9:g.152704240G>C	NCBI36
NG_012087.1:g.64948G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1167G>C MANE Select	ENSP00000357470.3:p.Lys389Asn
ENST00000344086.8:c.1073G>C	ENSP00000340589.4:p.Arg358Thr
ENST00000368485.7:c.1167G>C	ENSP00000357470.3:p.Lys389Asn
ENST00000502679.1:n.480G>C
ENST00000507256.1:n.365G>C
NM_000565.3:c.1167G>C	NP_000556.1:p.Lys389Asn
NM_181359.2:c.1073G>C	NP_852004.1:p.Arg358Thr
XM_005245139.1:c.931G>C	XP_005245196.1:p.Glu311Gln
XM_005245140.1:c.*8G>C	XP_005245197.1:n.*8G>C
XM_006711298.1:c.1215G>C	XP_006711361.1:p.Lys405Asn
XM_006711299.2:c.1121G>C	XP_006711362.1:p.Arg374Thr
XM_005245139.2:c.931G>C	XP_005245196.1:p.Glu311Gln
XM_005245140.3:c.*8G>C	XP_005245197.1:n.*8G>C
XM_006711298.2:c.1215G>C	XP_006711361.1:p.Lys405Asn
XM_006711299.4:c.1121G>C	XP_006711362.1:p.Arg374Thr
XM_017001199.2:c.1314G>C	XP_016856688.1:p.Lys438Asn
XM_017001200.2:c.1266G>C	XP_016856689.1:p.Lys422Asn
XM_017001201.2:c.*8G>C	XP_016856690.1:n.*8G>C
NM_000565.4:c.1167G>C MANE Select	NP_000556.1:p.Lys389Asn
NM_181359.3:c.1073G>C	NP_852004.1:p.Arg358Thr
NM_001382769.1:c.1266G>C	NP_001369698.1:p.Lys422Asn
NM_001382770.1:c.1260G>C	NP_001369699.1:p.Lys420Asn
NM_001382771.1:c.1215G>C	NP_001369700.1:p.Lys405Asn
NM_001382772.1:c.1161G>C	NP_001369701.1:p.Lys387Asn
NM_001382773.1:c.1121G>C	NP_001369702.1:p.Arg374Thr
NM_001382774.1:c.807G>C	NP_001369703.1:p.Lys269Asn