Canonical Allele Identifier: CA1129351

Gene: IL6R

Linked Data

• ClinVar Variation Id: 2957883
• ClinVar RCV Id: RCV003811546
• dbSNP Id: rs755384864
• ExAC: 1:154437778 G / A
• gnomAD v2: 1-154437778-G-A
• gnomAD v3: 1-154465302-G-A
• gnomAD v4: 1-154465302-G-A
• COSMIC: COSM82194
• MyVariant Identifiers: chr1:g.154437778G>A (hg19) ; chr1:g.154465302G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465302G>A , CM000663.2:g.154465302G>A	GRCh38
NC_000001.10:g.154437778G>A , CM000663.1:g.154437778G>A	GRCh37
NC_000001.9:g.152704402G>A	NCBI36
NG_012087.1:g.65110G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1329G>A MANE Select	ENSP00000357470.3:p.Ser443=
ENST00000344086.8:c.*137G>A	ENSP00000340589.4:n.*137G>A
ENST00000368485.7:c.1329G>A	ENSP00000357470.3:p.Ser443=
ENST00000507256.1:n.527G>A
NM_000565.3:c.1329G>A	NP_000556.1:p.Ser443=
NM_181359.2:c.*137G>A	NP_852004.1:n.*137G>A
XM_005245139.1:c.*10G>A	XP_005245196.1:n.*10G>A
XM_005245140.1:c.*170G>A	XP_005245197.1:n.*170G>A
XM_006711298.1:c.1377G>A	XP_006711361.1:p.Ser459=
XM_005245139.2:c.*10G>A	XP_005245196.1:n.*10G>A
XM_005245140.3:c.*170G>A	XP_005245197.1:n.*170G>A
XM_006711298.2:c.1377G>A	XP_006711361.1:p.Ser459=
XM_017001199.2:c.1476G>A	XP_016856688.1:p.Ser492=
XM_017001200.2:c.1428G>A	XP_016856689.1:p.Ser476=
XM_017001201.2:c.*170G>A	XP_016856690.1:n.*170G>A
NM_000565.4:c.1329G>A MANE Select	NP_000556.1:p.Ser443=
NM_181359.3:c.*137G>A	NP_852004.1:n.*137G>A
NM_001382769.1:c.1428G>A	NP_001369698.1:p.Ser476=
NM_001382770.1:c.1422G>A	NP_001369699.1:p.Ser474=
NM_001382771.1:c.1377G>A	NP_001369700.1:p.Ser459=
NM_001382772.1:c.1323G>A	NP_001369701.1:p.Ser441=
NM_001382773.1:c.*137G>A	NP_001369702.1:n.*137G>A
NM_001382774.1:c.969G>A	NP_001369703.1:p.Ser323=