Canonical Allele Identifier: CA342628482

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437685G>C (hg19) ; chr1:g.154465209G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465209G>C , CM000663.2:g.154465209G>C	GRCh38
NC_000001.10:g.154437685G>C , CM000663.1:g.154437685G>C	GRCh37
NC_000001.9:g.152704309G>C	NCBI36
NG_012087.1:g.65017G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1236G>C MANE Select	ENSP00000357470.3:p.Gln412His
ENST00000344086.8:c.*44G>C	ENSP00000340589.4:n.*44G>C
ENST00000368485.7:c.1236G>C	ENSP00000357470.3:p.Gln412His
ENST00000502679.1:n.549G>C
ENST00000507256.1:n.434G>C
NM_000565.3:c.1236G>C	NP_000556.1:p.Gln412His
NM_181359.2:c.*44G>C	NP_852004.1:n.*44G>C
XM_005245139.1:c.1000G>C	XP_005245196.1:p.Ala334Pro
XM_005245140.1:c.*77G>C	XP_005245197.1:n.*77G>C
XM_006711298.1:c.1284G>C	XP_006711361.1:p.Gln428His
XM_006711299.2:c.*44G>C	XP_006711362.1:n.*44G>C
XM_005245139.2:c.1000G>C	XP_005245196.1:p.Ala334Pro
XM_005245140.3:c.*77G>C	XP_005245197.1:n.*77G>C
XM_006711298.2:c.1284G>C	XP_006711361.1:p.Gln428His
XM_006711299.4:c.*44G>C	XP_006711362.1:n.*44G>C
XM_017001199.2:c.1383G>C	XP_016856688.1:p.Gln461His
XM_017001200.2:c.1335G>C	XP_016856689.1:p.Gln445His
XM_017001201.2:c.*77G>C	XP_016856690.1:n.*77G>C
NM_000565.4:c.1236G>C MANE Select	NP_000556.1:p.Gln412His
NM_181359.3:c.*44G>C	NP_852004.1:n.*44G>C
NM_001382769.1:c.1335G>C	NP_001369698.1:p.Gln445His
NM_001382770.1:c.1329G>C	NP_001369699.1:p.Gln443His
NM_001382771.1:c.1284G>C	NP_001369700.1:p.Gln428His
NM_001382772.1:c.1230G>C	NP_001369701.1:p.Gln410His
NM_001382773.1:c.*44G>C	NP_001369702.1:n.*44G>C
NM_001382774.1:c.876G>C	NP_001369703.1:p.Gln292His