Canonical Allele Identifier: CA1129214

Gene: IL6R

Linked Data

• ClinVar Variation Id: 2062894
• ClinVar RCV Id: RCV002958088
• dbSNP Id: rs372039120
• ExAC: 1:154420626 C / T
• gnomAD v2: 1-154420626-C-T
• gnomAD v3: 1-154448150-C-T
• gnomAD v4: 1-154448150-C-T
• MyVariant Identifiers: chr1:g.154420626C>T (hg19) ; chr1:g.154448150C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154448150C>T , CM000663.2:g.154448150C>T	GRCh38
NC_000001.10:g.154420626C>T , CM000663.1:g.154420626C>T	GRCh37
NC_000001.9:g.152687250C>T	NCBI36
NG_012087.1:g.47958C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.975C>T MANE Select	ENSP00000357470.3:p.Asn325=
ENST00000344086.8:c.975C>T	ENSP00000340589.4:p.Asn325=
ENST00000368485.7:c.975C>T	ENSP00000357470.3:p.Asn325=
ENST00000476006.5:c.791C>T
ENST00000507256.1:n.173C>T
ENST00000515190.1:c.383C>T
NM_000565.3:c.975C>T	NP_000556.1:p.Asn325=
NM_181359.2:c.975C>T	NP_852004.1:p.Asn325=
XM_005245139.1:c.833C>T	XP_005245196.1:p.Thr278Met
XM_005245140.1:c.833C>T	XP_005245197.1:p.Thr278Met
XM_006711298.1:c.1023C>T	XP_006711361.1:p.Asn341=
XM_006711299.2:c.1023C>T	XP_006711362.1:p.Asn341=
XM_005245139.2:c.833C>T	XP_005245196.1:p.Thr278Met
XM_005245140.3:c.833C>T	XP_005245197.1:p.Thr278Met
XM_006711298.2:c.1023C>T	XP_006711361.1:p.Asn341=
XM_006711299.4:c.1023C>T	XP_006711362.1:p.Asn341=
XM_017001199.2:c.1023C>T	XP_016856688.1:p.Asn341=
XM_017001200.2:c.975C>T	XP_016856689.1:p.Asn325=
XM_017001201.2:c.833C>T	XP_016856690.1:p.Thr278Met
NM_000565.4:c.975C>T MANE Select	NP_000556.1:p.Asn325=
NM_181359.3:c.975C>T	NP_852004.1:p.Asn325=
NM_001382769.1:c.975C>T	NP_001369698.1:p.Asn325=
NM_001382770.1:c.1068C>T	NP_001369699.1:p.Asn356=
NM_001382771.1:c.1023C>T	NP_001369700.1:p.Asn341=
NM_001382772.1:c.969C>T	NP_001369701.1:p.Asn323=
NM_001382773.1:c.1023C>T	NP_001369702.1:p.Asn341=
NM_001382774.1:c.615C>T	NP_001369703.1:p.Asn205=