Canonical Allele Identifier: CA1129326

Gene: IL6R

Linked Data

• dbSNP Id: rs750995068
• ExAC: 1:154437679 G / A
• gnomAD v2: 1-154437679-G-A
• gnomAD v3: 1-154465203-G-A
• gnomAD v4: 1-154465203-G-A
• MyVariant Identifiers: chr1:g.154437679G>A (hg19) ; chr1:g.154465203G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465203G>A , CM000663.2:g.154465203G>A	GRCh38
NC_000001.10:g.154437679G>A , CM000663.1:g.154437679G>A	GRCh37
NC_000001.9:g.152704303G>A	NCBI36
NG_012087.1:g.65011G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1230G>A MANE Select	ENSP00000357470.3:p.Leu410=
ENST00000344086.8:c.*38G>A	ENSP00000340589.4:n.*38G>A
ENST00000368485.7:c.1230G>A	ENSP00000357470.3:p.Leu410=
ENST00000502679.1:n.543G>A
ENST00000507256.1:n.428G>A
NM_000565.3:c.1230G>A	NP_000556.1:p.Leu410=
NM_181359.2:c.*38G>A	NP_852004.1:n.*38G>A
XM_005245139.1:c.994G>A	XP_005245196.1:p.Gly332Arg
XM_005245140.1:c.*71G>A	XP_005245197.1:n.*71G>A
XM_006711298.1:c.1278G>A	XP_006711361.1:p.Leu426=
XM_006711299.2:c.*38G>A	XP_006711362.1:n.*38G>A
XM_005245139.2:c.994G>A	XP_005245196.1:p.Gly332Arg
XM_005245140.3:c.*71G>A	XP_005245197.1:n.*71G>A
XM_006711298.2:c.1278G>A	XP_006711361.1:p.Leu426=
XM_006711299.4:c.*38G>A	XP_006711362.1:n.*38G>A
XM_017001199.2:c.1377G>A	XP_016856688.1:p.Leu459=
XM_017001200.2:c.1329G>A	XP_016856689.1:p.Leu443=
XM_017001201.2:c.*71G>A	XP_016856690.1:n.*71G>A
NM_000565.4:c.1230G>A MANE Select	NP_000556.1:p.Leu410=
NM_181359.3:c.*38G>A	NP_852004.1:n.*38G>A
NM_001382769.1:c.1329G>A	NP_001369698.1:p.Leu443=
NM_001382770.1:c.1323G>A	NP_001369699.1:p.Leu441=
NM_001382771.1:c.1278G>A	NP_001369700.1:p.Leu426=
NM_001382772.1:c.1224G>A	NP_001369701.1:p.Leu408=
NM_001382773.1:c.*38G>A	NP_001369702.1:n.*38G>A
NM_001382774.1:c.870G>A	NP_001369703.1:p.Leu290=