Canonical Allele Identifier: CA342628372

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437641A>C (hg19) ; chr1:g.154465165A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465165A>C , CM000663.2:g.154465165A>C	GRCh38
NC_000001.10:g.154437641A>C , CM000663.1:g.154437641A>C	GRCh37
NC_000001.9:g.152704265A>C	NCBI36
NG_012087.1:g.64973A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1192A>C MANE Select	ENSP00000357470.3:p.Lys398Gln
ENST00000344086.8:c.1098A>C	ENSP00000340589.4:p.Ter366Cys
ENST00000368485.7:c.1192A>C	ENSP00000357470.3:p.Lys398Gln
ENST00000502679.1:n.505A>C
ENST00000507256.1:n.390A>C
NM_000565.3:c.1192A>C	NP_000556.1:p.Lys398Gln
NM_181359.2:c.1098A>C	NP_852004.1:p.Ter366Cys
XM_005245139.1:c.956A>C	XP_005245196.1:p.Glu319Ala
XM_005245140.1:c.*33A>C	XP_005245197.1:n.*33A>C
XM_006711298.1:c.1240A>C	XP_006711361.1:p.Lys414Gln
XM_006711299.2:c.1146A>C	XP_006711362.1:p.Ter382Cys
XM_005245139.2:c.956A>C	XP_005245196.1:p.Glu319Ala
XM_005245140.3:c.*33A>C	XP_005245197.1:n.*33A>C
XM_006711298.2:c.1240A>C	XP_006711361.1:p.Lys414Gln
XM_006711299.4:c.1146A>C	XP_006711362.1:p.Ter382Cys
XM_017001199.2:c.1339A>C	XP_016856688.1:p.Lys447Gln
XM_017001200.2:c.1291A>C	XP_016856689.1:p.Lys431Gln
XM_017001201.2:c.*33A>C	XP_016856690.1:n.*33A>C
NM_000565.4:c.1192A>C MANE Select	NP_000556.1:p.Lys398Gln
NM_181359.3:c.1098A>C	NP_852004.1:p.Ter366Cys
NM_001382769.1:c.1291A>C	NP_001369698.1:p.Lys431Gln
NM_001382770.1:c.1285A>C	NP_001369699.1:p.Lys429Gln
NM_001382771.1:c.1240A>C	NP_001369700.1:p.Lys414Gln
NM_001382772.1:c.1186A>C	NP_001369701.1:p.Lys396Gln
NM_001382773.1:c.1146A>C	NP_001369702.1:p.Ter382Cys
NM_001382774.1:c.832A>C	NP_001369703.1:p.Lys278Gln