Canonical Allele Identifier: CA342628348

Gene: IL6R

Linked Data

• COSMIC: COSM269366
• MyVariant Identifiers: chr1:g.154437635G>A (hg19) ; chr1:g.154465159G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465159G>A , CM000663.2:g.154465159G>A	GRCh38
NC_000001.10:g.154437635G>A , CM000663.1:g.154437635G>A	GRCh37
NC_000001.9:g.152704259G>A	NCBI36
NG_012087.1:g.64967G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1186G>A MANE Select	ENSP00000357470.3:p.Ala396Thr
ENST00000344086.8:c.1092G>A	ENSP00000340589.4:p.Gly364=
ENST00000368485.7:c.1186G>A	ENSP00000357470.3:p.Ala396Thr
ENST00000502679.1:n.499G>A
ENST00000507256.1:n.384G>A
NM_000565.3:c.1186G>A	NP_000556.1:p.Ala396Thr
NM_181359.2:c.1092G>A	NP_852004.1:p.Gly364=
XM_005245139.1:c.950G>A	XP_005245196.1:p.Gly317Asp
XM_005245140.1:c.*27G>A	XP_005245197.1:n.*27G>A
XM_006711298.1:c.1234G>A	XP_006711361.1:p.Ala412Thr
XM_006711299.2:c.1140G>A	XP_006711362.1:p.Gly380=
XM_005245139.2:c.950G>A	XP_005245196.1:p.Gly317Asp
XM_005245140.3:c.*27G>A	XP_005245197.1:n.*27G>A
XM_006711298.2:c.1234G>A	XP_006711361.1:p.Ala412Thr
XM_006711299.4:c.1140G>A	XP_006711362.1:p.Gly380=
XM_017001199.2:c.1333G>A	XP_016856688.1:p.Ala445Thr
XM_017001200.2:c.1285G>A	XP_016856689.1:p.Ala429Thr
XM_017001201.2:c.*27G>A	XP_016856690.1:n.*27G>A
NM_000565.4:c.1186G>A MANE Select	NP_000556.1:p.Ala396Thr
NM_181359.3:c.1092G>A	NP_852004.1:p.Gly364=
NM_001382769.1:c.1285G>A	NP_001369698.1:p.Ala429Thr
NM_001382770.1:c.1279G>A	NP_001369699.1:p.Ala427Thr
NM_001382771.1:c.1234G>A	NP_001369700.1:p.Ala412Thr
NM_001382772.1:c.1180G>A	NP_001369701.1:p.Ala394Thr
NM_001382773.1:c.1140G>A	NP_001369702.1:p.Gly380=
NM_001382774.1:c.826G>A	NP_001369703.1:p.Ala276Thr