Canonical Allele Identifier: CA1129306

Gene: IL6R

Linked Data

• dbSNP Id: rs779566613
• ExAC: 1:154437619 G / T
• gnomAD v2: 1-154437619-G-T
• gnomAD v3: 1-154465143-G-T
• gnomAD v4: 1-154465143-G-T
• MyVariant Identifiers: chr1:g.154437619G>T (hg19) ; chr1:g.154465143G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465143G>T , CM000663.2:g.154465143G>T	GRCh38
NC_000001.10:g.154437619G>T , CM000663.1:g.154437619G>T	GRCh37
NC_000001.9:g.152704243G>T	NCBI36
NG_012087.1:g.64951G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1170G>T MANE Select	ENSP00000357470.3:p.Lys390Asn
ENST00000344086.8:c.1076G>T	ENSP00000340589.4:p.Arg359Ile
ENST00000368485.7:c.1170G>T	ENSP00000357470.3:p.Lys390Asn
ENST00000502679.1:n.483G>T
ENST00000507256.1:n.368G>T
NM_000565.3:c.1170G>T	NP_000556.1:p.Lys390Asn
NM_181359.2:c.1076G>T	NP_852004.1:p.Arg359Ile
XM_005245139.1:c.934G>T	XP_005245196.1:p.Asp312Tyr
XM_005245140.1:c.*11G>T	XP_005245197.1:n.*11G>T
XM_006711298.1:c.1218G>T	XP_006711361.1:p.Lys406Asn
XM_006711299.2:c.1124G>T	XP_006711362.1:p.Arg375Ile
XM_005245139.2:c.934G>T	XP_005245196.1:p.Asp312Tyr
XM_005245140.3:c.*11G>T	XP_005245197.1:n.*11G>T
XM_006711298.2:c.1218G>T	XP_006711361.1:p.Lys406Asn
XM_006711299.4:c.1124G>T	XP_006711362.1:p.Arg375Ile
XM_017001199.2:c.1317G>T	XP_016856688.1:p.Lys439Asn
XM_017001200.2:c.1269G>T	XP_016856689.1:p.Lys423Asn
XM_017001201.2:c.*11G>T	XP_016856690.1:n.*11G>T
NM_000565.4:c.1170G>T MANE Select	NP_000556.1:p.Lys390Asn
NM_181359.3:c.1076G>T	NP_852004.1:p.Arg359Ile
NM_001382769.1:c.1269G>T	NP_001369698.1:p.Lys423Asn
NM_001382770.1:c.1263G>T	NP_001369699.1:p.Lys421Asn
NM_001382771.1:c.1218G>T	NP_001369700.1:p.Lys406Asn
NM_001382772.1:c.1164G>T	NP_001369701.1:p.Lys388Asn
NM_001382773.1:c.1124G>T	NP_001369702.1:p.Arg375Ile
NM_001382774.1:c.810G>T	NP_001369703.1:p.Lys270Asn