Canonical Allele Identifier: CA420975892

Gene: IL6R

Linked Data

• dbSNP Id: rs2149280523
• gnomAD v4: 1-154465201-T-C
• MyVariant Identifiers: chr1:g.154437677T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465201T>C , CM000663.2:g.154465201T>C	GRCh38
NC_000001.10:g.154437677T>C , CM000663.1:g.154437677T>C	GRCh37
NC_000001.9:g.152704301T>C	NCBI36
NG_012087.1:g.65009T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1228T>C MANE Select	ENSP00000357470.3:p.Leu410=
ENST00000344086.8:c.*36T>C	ENSP00000340589.4:n.*36T>C
ENST00000368485.7:c.1228T>C	ENSP00000357470.3:p.Leu410=
ENST00000502679.1:n.541T>C
ENST00000507256.1:n.426T>C
NM_000565.3:c.1228T>C	NP_000556.1:p.Leu410=
NM_181359.2:c.*36T>C	NP_852004.1:n.*36T>C
XM_005245139.1:c.992T>C	XP_005245196.1:p.Phe331Ser
XM_005245140.1:c.*69T>C	XP_005245197.1:n.*69T>C
XM_006711298.1:c.1276T>C	XP_006711361.1:p.Leu426=
XM_006711299.2:c.*36T>C	XP_006711362.1:n.*36T>C
XM_005245139.2:c.992T>C	XP_005245196.1:p.Phe331Ser
XM_005245140.3:c.*69T>C	XP_005245197.1:n.*69T>C
XM_006711298.2:c.1276T>C	XP_006711361.1:p.Leu426=
XM_006711299.4:c.*36T>C	XP_006711362.1:n.*36T>C
XM_017001199.2:c.1375T>C	XP_016856688.1:p.Leu459=
XM_017001200.2:c.1327T>C	XP_016856689.1:p.Leu443=
XM_017001201.2:c.*69T>C	XP_016856690.1:n.*69T>C
NM_000565.4:c.1228T>C MANE Select	NP_000556.1:p.Leu410=
NM_181359.3:c.*36T>C	NP_852004.1:n.*36T>C
NM_001382769.1:c.1327T>C	NP_001369698.1:p.Leu443=
NM_001382770.1:c.1321T>C	NP_001369699.1:p.Leu441=
NM_001382771.1:c.1276T>C	NP_001369700.1:p.Leu426=
NM_001382772.1:c.1222T>C	NP_001369701.1:p.Leu408=
NM_001382773.1:c.*36T>C	NP_001369702.1:n.*36T>C
NM_001382774.1:c.868T>C	NP_001369703.1:p.Leu290=