Canonical Allele Identifier: CA1129324

Gene: IL6R

Linked Data

• ClinVar Variation Id: 1644945
• ClinVar RCV Id: RCV002148370
• dbSNP Id: rs764787666
• ExAC: 1:154437670 G / A
• gnomAD v2: 1-154437670-G-A
• gnomAD v3: 1-154465194-G-A
• gnomAD v4: 1-154465194-G-A
• MyVariant Identifiers: chr1:g.154437670G>A (hg19) ; chr1:g.154465194G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465194G>A , CM000663.2:g.154465194G>A	GRCh38
NC_000001.10:g.154437670G>A , CM000663.1:g.154437670G>A	GRCh37
NC_000001.9:g.152704294G>A	NCBI36
NG_012087.1:g.65002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1221G>A MANE Select	ENSP00000357470.3:p.Pro407=
ENST00000344086.8:c.*29G>A	ENSP00000340589.4:n.*29G>A
ENST00000368485.7:c.1221G>A	ENSP00000357470.3:p.Pro407=
ENST00000502679.1:n.534G>A
ENST00000507256.1:n.419G>A
NM_000565.3:c.1221G>A	NP_000556.1:p.Pro407=
NM_181359.2:c.*29G>A	NP_852004.1:n.*29G>A
XM_005245139.1:c.985G>A	XP_005245196.1:p.Val329Ile
XM_005245140.1:c.*62G>A	XP_005245197.1:n.*62G>A
XM_006711298.1:c.1269G>A	XP_006711361.1:p.Pro423=
XM_006711299.2:c.*29G>A	XP_006711362.1:n.*29G>A
XM_005245139.2:c.985G>A	XP_005245196.1:p.Val329Ile
XM_005245140.3:c.*62G>A	XP_005245197.1:n.*62G>A
XM_006711298.2:c.1269G>A	XP_006711361.1:p.Pro423=
XM_006711299.4:c.*29G>A	XP_006711362.1:n.*29G>A
XM_017001199.2:c.1368G>A	XP_016856688.1:p.Pro456=
XM_017001200.2:c.1320G>A	XP_016856689.1:p.Pro440=
XM_017001201.2:c.*62G>A	XP_016856690.1:n.*62G>A
NM_000565.4:c.1221G>A MANE Select	NP_000556.1:p.Pro407=
NM_181359.3:c.*29G>A	NP_852004.1:n.*29G>A
NM_001382769.1:c.1320G>A	NP_001369698.1:p.Pro440=
NM_001382770.1:c.1314G>A	NP_001369699.1:p.Pro438=
NM_001382771.1:c.1269G>A	NP_001369700.1:p.Pro423=
NM_001382772.1:c.1215G>A	NP_001369701.1:p.Pro405=
NM_001382773.1:c.*29G>A	NP_001369702.1:n.*29G>A
NM_001382774.1:c.861G>A	NP_001369703.1:p.Pro287=