Canonical Allele Identifier: CA30807299

Gene: IL6R

Linked Data

• ClinVar Variation Id: 2639369
• ClinVar RCV Id: RCV003409063
• dbSNP Id: rs866229887
• gnomAD v4: 1-154448132-G-A
• MyVariant Identifiers: chr1:g.154420608G>A (hg19) ; chr1:g.154448132G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154448132G>A , CM000663.2:g.154448132G>A	GRCh38
NC_000001.10:g.154420608G>A , CM000663.1:g.154420608G>A	GRCh37
NC_000001.9:g.152687232G>A	NCBI36
NG_012087.1:g.47940G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000368485.8:c.957G>A MANE Select	ENSP00000357470.3:p.Arg319=
ENST00000344086.8:c.957G>A	ENSP00000340589.4:p.Arg319=
ENST00000368485.7:c.957G>A	ENSP00000357470.3:p.Arg319=
ENST00000476006.5:c.773G>A
ENST00000507256.1:n.155G>A
ENST00000515190.1:c.365G>A
NM_000565.3:c.957G>A	NP_000556.1:p.Arg319=
NM_181359.2:c.957G>A	NP_852004.1:p.Arg319=
XM_005245139.1:c.815G>A	XP_005245196.1:p.Gly272Glu
XM_005245140.1:c.815G>A	XP_005245197.1:p.Gly272Glu
XM_006711298.1:c.1005G>A	XP_006711361.1:p.Arg335=
XM_006711299.2:c.1005G>A	XP_006711362.1:p.Arg335=
XM_005245139.2:c.815G>A	XP_005245196.1:p.Gly272Glu
XM_005245140.3:c.815G>A	XP_005245197.1:p.Gly272Glu
XM_006711298.2:c.1005G>A	XP_006711361.1:p.Arg335=
XM_006711299.4:c.1005G>A	XP_006711362.1:p.Arg335=
XM_017001199.2:c.1005G>A	XP_016856688.1:p.Arg335=
XM_017001200.2:c.957G>A	XP_016856689.1:p.Arg319=
XM_017001201.2:c.815G>A	XP_016856690.1:p.Gly272Glu
NM_000565.4:c.957G>A MANE Select	NP_000556.1:p.Arg319=
NM_181359.3:c.957G>A	NP_852004.1:p.Arg319=
NM_001382769.1:c.957G>A	NP_001369698.1:p.Arg319=
NM_001382770.1:c.1050G>A	NP_001369699.1:p.Arg350=
NM_001382771.1:c.1005G>A	NP_001369700.1:p.Arg335=
NM_001382772.1:c.951G>A	NP_001369701.1:p.Arg317=
NM_001382773.1:c.1005G>A	NP_001369702.1:p.Arg335=
NM_001382774.1:c.597G>A	NP_001369703.1:p.Arg199=