Canonical Allele Identifier: CA342628608

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437753G>A (hg19) ; chr1:g.154465277G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465277G>A , CM000663.2:g.154465277G>A	GRCh38
NC_000001.10:g.154437753G>A , CM000663.1:g.154437753G>A	GRCh37
NC_000001.9:g.152704377G>A	NCBI36
NG_012087.1:g.65085G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1304G>A MANE Select	ENSP00000357470.3:p.Ser435Asn
ENST00000344086.8:c.*112G>A	ENSP00000340589.4:n.*112G>A
ENST00000368485.7:c.1304G>A	ENSP00000357470.3:p.Ser435Asn
ENST00000507256.1:n.502G>A
NM_000565.3:c.1304G>A	NP_000556.1:p.Ser435Asn
NM_181359.2:c.*112G>A	NP_852004.1:n.*112G>A
XM_005245139.1:c.1068G>A	XP_005245196.1:p.Gln356=
XM_005245140.1:c.*145G>A	XP_005245197.1:n.*145G>A
XM_006711298.1:c.1352G>A	XP_006711361.1:p.Ser451Asn
XM_005245139.2:c.1068G>A	XP_005245196.1:p.Gln356=
XM_005245140.3:c.*145G>A	XP_005245197.1:n.*145G>A
XM_006711298.2:c.1352G>A	XP_006711361.1:p.Ser451Asn
XM_017001199.2:c.1451G>A	XP_016856688.1:p.Ser484Asn
XM_017001200.2:c.1403G>A	XP_016856689.1:p.Ser468Asn
XM_017001201.2:c.*145G>A	XP_016856690.1:n.*145G>A
NM_000565.4:c.1304G>A MANE Select	NP_000556.1:p.Ser435Asn
NM_181359.3:c.*112G>A	NP_852004.1:n.*112G>A
NM_001382769.1:c.1403G>A	NP_001369698.1:p.Ser468Asn
NM_001382770.1:c.1397G>A	NP_001369699.1:p.Ser466Asn
NM_001382771.1:c.1352G>A	NP_001369700.1:p.Ser451Asn
NM_001382772.1:c.1298G>A	NP_001369701.1:p.Ser433Asn
NM_001382773.1:c.*112G>A	NP_001369702.1:n.*112G>A
NM_001382774.1:c.944G>A	NP_001369703.1:p.Ser315Asn