Canonical Allele Identifier: CA30816358

Gene: IL6R

Linked Data

• ClinVar Variation Id: 1558684
• ClinVar RCV Id: RCV002200099
• dbSNP Id: rs907353552
• gnomAD v2: 1-154437667-G-A
• gnomAD v3: 1-154465191-G-A
• gnomAD v4: 1-154465191-G-A
• COSMIC: COSM5341563
• MyVariant Identifiers: chr1:g.154437667G>A (hg19) ; chr1:g.154465191G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465191G>A , CM000663.2:g.154465191G>A	GRCh38
NC_000001.10:g.154437667G>A , CM000663.1:g.154437667G>A	GRCh37
NC_000001.9:g.152704291G>A	NCBI36
NG_012087.1:g.64999G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1218G>A MANE Select	ENSP00000357470.3:p.Pro406=
ENST00000344086.8:c.*26G>A	ENSP00000340589.4:n.*26G>A
ENST00000368485.7:c.1218G>A	ENSP00000357470.3:p.Pro406=
ENST00000502679.1:n.531G>A
ENST00000507256.1:n.416G>A
NM_000565.3:c.1218G>A	NP_000556.1:p.Pro406=
NM_181359.2:c.*26G>A	NP_852004.1:n.*26G>A
XM_005245139.1:c.982G>A	XP_005245196.1:p.Ala328Thr
XM_005245140.1:c.*59G>A	XP_005245197.1:n.*59G>A
XM_006711298.1:c.1266G>A	XP_006711361.1:p.Pro422=
XM_006711299.2:c.*26G>A	XP_006711362.1:n.*26G>A
XM_005245139.2:c.982G>A	XP_005245196.1:p.Ala328Thr
XM_005245140.3:c.*59G>A	XP_005245197.1:n.*59G>A
XM_006711298.2:c.1266G>A	XP_006711361.1:p.Pro422=
XM_006711299.4:c.*26G>A	XP_006711362.1:n.*26G>A
XM_017001199.2:c.1365G>A	XP_016856688.1:p.Pro455=
XM_017001200.2:c.1317G>A	XP_016856689.1:p.Pro439=
XM_017001201.2:c.*59G>A	XP_016856690.1:n.*59G>A
NM_000565.4:c.1218G>A MANE Select	NP_000556.1:p.Pro406=
NM_181359.3:c.*26G>A	NP_852004.1:n.*26G>A
NM_001382769.1:c.1317G>A	NP_001369698.1:p.Pro439=
NM_001382770.1:c.1311G>A	NP_001369699.1:p.Pro437=
NM_001382771.1:c.1266G>A	NP_001369700.1:p.Pro422=
NM_001382772.1:c.1212G>A	NP_001369701.1:p.Pro404=
NM_001382773.1:c.*26G>A	NP_001369702.1:n.*26G>A
NM_001382774.1:c.858G>A	NP_001369703.1:p.Pro286=