Canonical Allele Identifier: CA342628275

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437623T>C (hg19) ; chr1:g.154465147T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465147T>C , CM000663.2:g.154465147T>C	GRCh38
NC_000001.10:g.154437623T>C , CM000663.1:g.154437623T>C	GRCh37
NC_000001.9:g.152704247T>C	NCBI36
NG_012087.1:g.64955T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1174T>C MANE Select	ENSP00000357470.3:p.Trp392Arg
ENST00000344086.8:c.1080T>C	ENSP00000340589.4:p.Arg360=
ENST00000368485.7:c.1174T>C	ENSP00000357470.3:p.Trp392Arg
ENST00000502679.1:n.487T>C
ENST00000507256.1:n.372T>C
NM_000565.3:c.1174T>C	NP_000556.1:p.Trp392Arg
NM_181359.2:c.1080T>C	NP_852004.1:p.Arg360=
XM_005245139.1:c.938T>C	XP_005245196.1:p.Val313Ala
XM_005245140.1:c.*15T>C	XP_005245197.1:n.*15T>C
XM_006711298.1:c.1222T>C	XP_006711361.1:p.Trp408Arg
XM_006711299.2:c.1128T>C	XP_006711362.1:p.Arg376=
XM_005245139.2:c.938T>C	XP_005245196.1:p.Val313Ala
XM_005245140.3:c.*15T>C	XP_005245197.1:n.*15T>C
XM_006711298.2:c.1222T>C	XP_006711361.1:p.Trp408Arg
XM_006711299.4:c.1128T>C	XP_006711362.1:p.Arg376=
XM_017001199.2:c.1321T>C	XP_016856688.1:p.Trp441Arg
XM_017001200.2:c.1273T>C	XP_016856689.1:p.Trp425Arg
XM_017001201.2:c.*15T>C	XP_016856690.1:n.*15T>C
NM_000565.4:c.1174T>C MANE Select	NP_000556.1:p.Trp392Arg
NM_181359.3:c.1080T>C	NP_852004.1:p.Arg360=
NM_001382769.1:c.1273T>C	NP_001369698.1:p.Trp425Arg
NM_001382770.1:c.1267T>C	NP_001369699.1:p.Trp423Arg
NM_001382771.1:c.1222T>C	NP_001369700.1:p.Trp408Arg
NM_001382772.1:c.1168T>C	NP_001369701.1:p.Trp390Arg
NM_001382773.1:c.1128T>C	NP_001369702.1:p.Arg376=
NM_001382774.1:c.814T>C	NP_001369703.1:p.Trp272Arg