Canonical Allele Identifier: CA342628387

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437645A>C (hg19) ; chr1:g.154465169A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465169A>C , CM000663.2:g.154465169A>C	GRCh38
NC_000001.10:g.154437645A>C , CM000663.1:g.154437645A>C	GRCh37
NC_000001.9:g.152704269A>C	NCBI36
NG_012087.1:g.64977A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1196A>C MANE Select	ENSP00000357470.3:p.Glu399Ala
ENST00000344086.8:c.*4A>C	ENSP00000340589.4:n.*4A>C
ENST00000368485.7:c.1196A>C	ENSP00000357470.3:p.Glu399Ala
ENST00000502679.1:n.509A>C
ENST00000507256.1:n.394A>C
NM_000565.3:c.1196A>C	NP_000556.1:p.Glu399Ala
NM_181359.2:c.*4A>C	NP_852004.1:n.*4A>C
XM_005245139.1:c.960A>C	XP_005245196.1:p.Gly320=
XM_005245140.1:c.*37A>C	XP_005245197.1:n.*37A>C
XM_006711298.1:c.1244A>C	XP_006711361.1:p.Glu415Ala
XM_006711299.2:c.*4A>C	XP_006711362.1:n.*4A>C
XM_005245139.2:c.960A>C	XP_005245196.1:p.Gly320=
XM_005245140.3:c.*37A>C	XP_005245197.1:n.*37A>C
XM_006711298.2:c.1244A>C	XP_006711361.1:p.Glu415Ala
XM_006711299.4:c.*4A>C	XP_006711362.1:n.*4A>C
XM_017001199.2:c.1343A>C	XP_016856688.1:p.Glu448Ala
XM_017001200.2:c.1295A>C	XP_016856689.1:p.Glu432Ala
XM_017001201.2:c.*37A>C	XP_016856690.1:n.*37A>C
NM_000565.4:c.1196A>C MANE Select	NP_000556.1:p.Glu399Ala
NM_181359.3:c.*4A>C	NP_852004.1:n.*4A>C
NM_001382769.1:c.1295A>C	NP_001369698.1:p.Glu432Ala
NM_001382770.1:c.1289A>C	NP_001369699.1:p.Glu430Ala
NM_001382771.1:c.1244A>C	NP_001369700.1:p.Glu415Ala
NM_001382772.1:c.1190A>C	NP_001369701.1:p.Glu397Ala
NM_001382773.1:c.*4A>C	NP_001369702.1:n.*4A>C
NM_001382774.1:c.836A>C	NP_001369703.1:p.Glu279Ala