Canonical Allele Identifier: CA1129309

Gene: IL6R

Linked Data

• dbSNP Id: rs780834522
• ExAC: 1:154437621 C / A
• gnomAD v2: 1-154437621-C-A
• gnomAD v3: 1-154465145-C-A
• gnomAD v4: 1-154465145-C-A
• MyVariant Identifiers: chr1:g.154437621C>A (hg19) ; chr1:g.154465145C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465145C>A , CM000663.2:g.154465145C>A	GRCh38
NC_000001.10:g.154437621C>A , CM000663.1:g.154437621C>A	GRCh37
NC_000001.9:g.152704245C>A	NCBI36
NG_012087.1:g.64953C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1172C>A MANE Select	ENSP00000357470.3:p.Thr391Lys
ENST00000344086.8:c.1078C>A	ENSP00000340589.4:p.Arg360Ser
ENST00000368485.7:c.1172C>A	ENSP00000357470.3:p.Thr391Lys
ENST00000502679.1:n.485C>A
ENST00000507256.1:n.370C>A
NM_000565.3:c.1172C>A	NP_000556.1:p.Thr391Lys
NM_181359.2:c.1078C>A	NP_852004.1:p.Arg360Ser
XM_005245139.1:c.936C>A	XP_005245196.1:p.Asp312Glu
XM_005245140.1:c.*13C>A	XP_005245197.1:n.*13C>A
XM_006711298.1:c.1220C>A	XP_006711361.1:p.Thr407Lys
XM_006711299.2:c.1126C>A	XP_006711362.1:p.Arg376Ser
XM_005245139.2:c.936C>A	XP_005245196.1:p.Asp312Glu
XM_005245140.3:c.*13C>A	XP_005245197.1:n.*13C>A
XM_006711298.2:c.1220C>A	XP_006711361.1:p.Thr407Lys
XM_006711299.4:c.1126C>A	XP_006711362.1:p.Arg376Ser
XM_017001199.2:c.1319C>A	XP_016856688.1:p.Thr440Lys
XM_017001200.2:c.1271C>A	XP_016856689.1:p.Thr424Lys
XM_017001201.2:c.*13C>A	XP_016856690.1:n.*13C>A
NM_000565.4:c.1172C>A MANE Select	NP_000556.1:p.Thr391Lys
NM_181359.3:c.1078C>A	NP_852004.1:p.Arg360Ser
NM_001382769.1:c.1271C>A	NP_001369698.1:p.Thr424Lys
NM_001382770.1:c.1265C>A	NP_001369699.1:p.Thr422Lys
NM_001382771.1:c.1220C>A	NP_001369700.1:p.Thr407Lys
NM_001382772.1:c.1166C>A	NP_001369701.1:p.Thr389Lys
NM_001382773.1:c.1126C>A	NP_001369702.1:p.Arg376Ser
NM_001382774.1:c.812C>A	NP_001369703.1:p.Thr271Lys