Canonical Allele Identifier: CA420975955

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437718G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465242G>T , CM000663.2:g.154465242G>T	GRCh38
NC_000001.10:g.154437718G>T , CM000663.1:g.154437718G>T	GRCh37
NC_000001.9:g.152704342G>T	NCBI36
NG_012087.1:g.65050G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1269G>T MANE Select	ENSP00000357470.3:p.Val423=
ENST00000344086.8:c.*77G>T	ENSP00000340589.4:n.*77G>T
ENST00000368485.7:c.1269G>T	ENSP00000357470.3:p.Val423=
ENST00000502679.1:n.582G>T
ENST00000507256.1:n.467G>T
NM_000565.3:c.1269G>T	NP_000556.1:p.Val423=
NM_181359.2:c.*77G>T	NP_852004.1:n.*77G>T
XM_005245139.1:c.1033G>T	XP_005245196.1:p.Ala345Ser
XM_005245140.1:c.*110G>T	XP_005245197.1:n.*110G>T
XM_006711298.1:c.1317G>T	XP_006711361.1:p.Val439=
XM_006711299.2:c.*77G>T	XP_006711362.1:n.*77G>T
XM_005245139.2:c.1033G>T	XP_005245196.1:p.Ala345Ser
XM_005245140.3:c.*110G>T	XP_005245197.1:n.*110G>T
XM_006711298.2:c.1317G>T	XP_006711361.1:p.Val439=
XM_006711299.4:c.*77G>T	XP_006711362.1:n.*77G>T
XM_017001199.2:c.1416G>T	XP_016856688.1:p.Val472=
XM_017001200.2:c.1368G>T	XP_016856689.1:p.Val456=
XM_017001201.2:c.*110G>T	XP_016856690.1:n.*110G>T
NM_000565.4:c.1269G>T MANE Select	NP_000556.1:p.Val423=
NM_181359.3:c.*77G>T	NP_852004.1:n.*77G>T
NM_001382769.1:c.1368G>T	NP_001369698.1:p.Val456=
NM_001382770.1:c.1362G>T	NP_001369699.1:p.Val454=
NM_001382771.1:c.1317G>T	NP_001369700.1:p.Val439=
NM_001382772.1:c.1263G>T	NP_001369701.1:p.Val421=
NM_001382773.1:c.*77G>T	NP_001369702.1:n.*77G>T
NM_001382774.1:c.909G>T	NP_001369703.1:p.Val303=