Canonical Allele Identifier: CA420975969

Gene: IL6R

Linked Data

• gnomAD v4: 1-154465254-C-T
• MyVariant Identifiers: chr1:g.154437730C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465254C>T , CM000663.2:g.154465254C>T	GRCh38
NC_000001.10:g.154437730C>T , CM000663.1:g.154437730C>T	GRCh37
NC_000001.9:g.152704354C>T	NCBI36
NG_012087.1:g.65062C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1281C>T MANE Select	ENSP00000357470.3:p.Leu427=
ENST00000344086.8:c.*89C>T	ENSP00000340589.4:n.*89C>T
ENST00000368485.7:c.1281C>T	ENSP00000357470.3:p.Leu427=
ENST00000507256.1:n.479C>T
NM_000565.3:c.1281C>T	NP_000556.1:p.Leu427=
NM_181359.2:c.*89C>T	NP_852004.1:n.*89C>T
XM_005245139.1:c.1045C>T	XP_005245196.1:p.His349Tyr
XM_005245140.1:c.*122C>T	XP_005245197.1:n.*122C>T
XM_006711298.1:c.1329C>T	XP_006711361.1:p.Leu443=
XM_005245139.2:c.1045C>T	XP_005245196.1:p.His349Tyr
XM_005245140.3:c.*122C>T	XP_005245197.1:n.*122C>T
XM_006711298.2:c.1329C>T	XP_006711361.1:p.Leu443=
XM_017001199.2:c.1428C>T	XP_016856688.1:p.Leu476=
XM_017001200.2:c.1380C>T	XP_016856689.1:p.Leu460=
XM_017001201.2:c.*122C>T	XP_016856690.1:n.*122C>T
NM_000565.4:c.1281C>T MANE Select	NP_000556.1:p.Leu427=
NM_181359.3:c.*89C>T	NP_852004.1:n.*89C>T
NM_001382769.1:c.1380C>T	NP_001369698.1:p.Leu460=
NM_001382770.1:c.1374C>T	NP_001369699.1:p.Leu458=
NM_001382771.1:c.1329C>T	NP_001369700.1:p.Leu443=
NM_001382772.1:c.1275C>T	NP_001369701.1:p.Leu425=
NM_001382773.1:c.*89C>T	NP_001369702.1:n.*89C>T
NM_001382774.1:c.921C>T	NP_001369703.1:p.Leu307=