Canonical Allele Identifier: CA342628657

Gene: IL6R

Linked Data

• gnomAD v4: 1-154465298-C-T
• MyVariant Identifiers: chr1:g.154437774C>T (hg19) ; chr1:g.154465298C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465298C>T , CM000663.2:g.154465298C>T	GRCh38
NC_000001.10:g.154437774C>T , CM000663.1:g.154437774C>T	GRCh37
NC_000001.9:g.152704398C>T	NCBI36
NG_012087.1:g.65106C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1325C>T MANE Select	ENSP00000357470.3:p.Thr442Ile
ENST00000344086.8:c.*133C>T	ENSP00000340589.4:n.*133C>T
ENST00000368485.7:c.1325C>T	ENSP00000357470.3:p.Thr442Ile
ENST00000507256.1:n.523C>T
NM_000565.3:c.1325C>T	NP_000556.1:p.Thr442Ile
NM_181359.2:c.*133C>T	NP_852004.1:n.*133C>T
XM_005245139.1:c.*6C>T	XP_005245196.1:n.*6C>T
XM_005245140.1:c.*166C>T	XP_005245197.1:n.*166C>T
XM_006711298.1:c.1373C>T	XP_006711361.1:p.Thr458Ile
XM_005245139.2:c.*6C>T	XP_005245196.1:n.*6C>T
XM_005245140.3:c.*166C>T	XP_005245197.1:n.*166C>T
XM_006711298.2:c.1373C>T	XP_006711361.1:p.Thr458Ile
XM_017001199.2:c.1472C>T	XP_016856688.1:p.Thr491Ile
XM_017001200.2:c.1424C>T	XP_016856689.1:p.Thr475Ile
XM_017001201.2:c.*166C>T	XP_016856690.1:n.*166C>T
NM_000565.4:c.1325C>T MANE Select	NP_000556.1:p.Thr442Ile
NM_181359.3:c.*133C>T	NP_852004.1:n.*133C>T
NM_001382769.1:c.1424C>T	NP_001369698.1:p.Thr475Ile
NM_001382770.1:c.1418C>T	NP_001369699.1:p.Thr473Ile
NM_001382771.1:c.1373C>T	NP_001369700.1:p.Thr458Ile
NM_001382772.1:c.1319C>T	NP_001369701.1:p.Thr440Ile
NM_001382773.1:c.*133C>T	NP_001369702.1:n.*133C>T
NM_001382774.1:c.965C>T	NP_001369703.1:p.Thr322Ile