Canonical Allele Identifier: CA1129207

Gene: IL6R

Linked Data

• ClinVar Variation Id: 3023204
• ClinVar RCV Id: RCV003882390
• dbSNP Id: rs376570981
• ExAC: 1:154420583 C / A
• gnomAD v2: 1-154420583-C-A
• gnomAD v3: 1-154448107-C-A
• gnomAD v4: 1-154448107-C-A
• MyVariant Identifiers: chr1:g.154420583C>A (hg19) ; chr1:g.154448107C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154448107C>A , CM000663.2:g.154448107C>A	GRCh38
NC_000001.10:g.154420583C>A , CM000663.1:g.154420583C>A	GRCh37
NC_000001.9:g.152687207C>A	NCBI36
NG_012087.1:g.47915C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000368485.8:c.950-18C>A MANE Select	ENSP00000357470.3:n.950-18C>A
ENST00000344086.8:c.950-18C>A	ENSP00000340589.4:n.950-18C>A
ENST00000368485.7:c.950-18C>A	ENSP00000357470.3:n.950-18C>A
ENST00000476006.5:c.766-18C>A
ENST00000507256.1:n.148-18C>A
ENST00000515190.1:c.358-18C>A
NM_000565.3:c.950-18C>A	NP_000556.1:n.950-18C>A
NM_181359.2:c.950-18C>A	NP_852004.1:n.950-18C>A
XM_005245139.1:c.808-18C>A	XP_005245196.1:n.808-18C>A
XM_005245140.1:c.808-18C>A	XP_005245197.1:n.808-18C>A
XM_006711298.1:c.998-18C>A	XP_006711361.1:n.998-18C>A
XM_006711299.2:c.998-18C>A	XP_006711362.1:n.998-18C>A
XM_005245139.2:c.808-18C>A	XP_005245196.1:n.808-18C>A
XM_005245140.3:c.808-18C>A	XP_005245197.1:n.808-18C>A
XM_006711298.2:c.998-18C>A	XP_006711361.1:n.998-18C>A
XM_006711299.4:c.998-18C>A	XP_006711362.1:n.998-18C>A
XM_017001199.2:c.998-18C>A	XP_016856688.1:n.998-18C>A
XM_017001200.2:c.950-18C>A	XP_016856689.1:n.950-18C>A
XM_017001201.2:c.808-18C>A	XP_016856690.1:n.808-18C>A
NM_000565.4:c.950-18C>A MANE Select	NP_000556.1:n.950-18C>A
NM_181359.3:c.950-18C>A	NP_852004.1:n.950-18C>A
NM_001382769.1:c.950-18C>A	NP_001369698.1:n.950-18C>A
NM_001382770.1:c.1043-18C>A	NP_001369699.1:n.1043-18C>A
NM_001382771.1:c.998-18C>A	NP_001369700.1:n.998-18C>A
NM_001382772.1:c.944-18C>A	NP_001369701.1:n.944-18C>A
NM_001382773.1:c.998-18C>A	NP_001369702.1:n.998-18C>A
NM_001382774.1:c.590-18C>A	NP_001369703.1:n.590-18C>A