Canonical Allele Identifier: CA342628226

Gene: IL6R

Linked Data

• gnomAD v4: 1-154465138-A-G
• MyVariant Identifiers: chr1:g.154437614A>G (hg19) ; chr1:g.154465138A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465138A>G , CM000663.2:g.154465138A>G	GRCh38
NC_000001.10:g.154437614A>G , CM000663.1:g.154437614A>G	GRCh37
NC_000001.9:g.152704238A>G	NCBI36
NG_012087.1:g.64946A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1165A>G MANE Select	ENSP00000357470.3:p.Lys389Glu
ENST00000344086.8:c.1071A>G	ENSP00000340589.4:p.Ser357=
ENST00000368485.7:c.1165A>G	ENSP00000357470.3:p.Lys389Glu
ENST00000502679.1:n.478A>G
ENST00000507256.1:n.363A>G
NM_000565.3:c.1165A>G	NP_000556.1:p.Lys389Glu
NM_181359.2:c.1071A>G	NP_852004.1:p.Ser357=
XM_005245139.1:c.929A>G	XP_005245196.1:p.Gln310Arg
XM_005245140.1:c.*6A>G	XP_005245197.1:n.*6A>G
XM_006711298.1:c.1213A>G	XP_006711361.1:p.Lys405Glu
XM_006711299.2:c.1119A>G	XP_006711362.1:p.Ser373=
XM_005245139.2:c.929A>G	XP_005245196.1:p.Gln310Arg
XM_005245140.3:c.*6A>G	XP_005245197.1:n.*6A>G
XM_006711298.2:c.1213A>G	XP_006711361.1:p.Lys405Glu
XM_006711299.4:c.1119A>G	XP_006711362.1:p.Ser373=
XM_017001199.2:c.1312A>G	XP_016856688.1:p.Lys438Glu
XM_017001200.2:c.1264A>G	XP_016856689.1:p.Lys422Glu
XM_017001201.2:c.*6A>G	XP_016856690.1:n.*6A>G
NM_000565.4:c.1165A>G MANE Select	NP_000556.1:p.Lys389Glu
NM_181359.3:c.1071A>G	NP_852004.1:p.Ser357=
NM_001382769.1:c.1264A>G	NP_001369698.1:p.Lys422Glu
NM_001382770.1:c.1258A>G	NP_001369699.1:p.Lys420Glu
NM_001382771.1:c.1213A>G	NP_001369700.1:p.Lys405Glu
NM_001382772.1:c.1159A>G	NP_001369701.1:p.Lys387Glu
NM_001382773.1:c.1119A>G	NP_001369702.1:p.Ser373=
NM_001382774.1:c.805A>G	NP_001369703.1:p.Lys269Glu