Canonical Allele Identifier: CA342628786

Gene: IL6R

Linked Data

• gnomAD v4: 1-154465352-G-A
• MyVariant Identifiers: chr1:g.154437828G>A (hg19) ; chr1:g.154465352G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465352G>A , CM000663.2:g.154465352G>A	GRCh38
NC_000001.10:g.154437828G>A , CM000663.1:g.154437828G>A	GRCh37
NC_000001.9:g.152704452G>A	NCBI36
NG_012087.1:g.65160G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1379G>A MANE Select	ENSP00000357470.3:p.Ser460Asn
ENST00000344086.8:c.*187G>A	ENSP00000340589.4:n.*187G>A
ENST00000368485.7:c.1379G>A	ENSP00000357470.3:p.Ser460Asn
NM_000565.3:c.1379G>A	NP_000556.1:p.Ser460Asn
NM_181359.2:c.*187G>A	NP_852004.1:n.*187G>A
XM_005245139.1:c.*60G>A	XP_005245196.1:n.*60G>A
XM_005245140.1:c.*220G>A	XP_005245197.1:n.*220G>A
XM_006711298.1:c.1427G>A	XP_006711361.1:p.Ser476Asn
XM_005245139.2:c.*60G>A	XP_005245196.1:n.*60G>A
XM_005245140.3:c.*220G>A	XP_005245197.1:n.*220G>A
XM_006711298.2:c.1427G>A	XP_006711361.1:p.Ser476Asn
XM_017001199.2:c.1526G>A	XP_016856688.1:p.Ser509Asn
XM_017001200.2:c.1478G>A	XP_016856689.1:p.Ser493Asn
XM_017001201.2:c.*220G>A	XP_016856690.1:n.*220G>A
NM_000565.4:c.1379G>A MANE Select	NP_000556.1:p.Ser460Asn
NM_181359.3:c.*187G>A	NP_852004.1:n.*187G>A
NM_001382769.1:c.1478G>A	NP_001369698.1:p.Ser493Asn
NM_001382770.1:c.1472G>A	NP_001369699.1:p.Ser491Asn
NM_001382771.1:c.1427G>A	NP_001369700.1:p.Ser476Asn
NM_001382772.1:c.1373G>A	NP_001369701.1:p.Ser458Asn
NM_001382773.1:c.*187G>A	NP_001369702.1:n.*187G>A
NM_001382774.1:c.1019G>A	NP_001369703.1:p.Ser340Asn