Canonical Allele Identifier: CA342628798

Gene: IL6R

Linked Data

• dbSNP Id: rs1431089810
• gnomAD v3: 1-154465355-A-G
• gnomAD v4: 1-154465355-A-G
• MyVariant Identifiers: chr1:g.154437831A>G (hg19) ; chr1:g.154465355A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465355A>G , CM000663.2:g.154465355A>G	GRCh38
NC_000001.10:g.154437831A>G , CM000663.1:g.154437831A>G	GRCh37
NC_000001.9:g.152704455A>G	NCBI36
NG_012087.1:g.65163A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1382A>G MANE Select	ENSP00000357470.3:p.Asn461Ser
ENST00000344086.8:c.*190A>G	ENSP00000340589.4:n.*190A>G
ENST00000368485.7:c.1382A>G	ENSP00000357470.3:p.Asn461Ser
NM_000565.3:c.1382A>G	NP_000556.1:p.Asn461Ser
NM_181359.2:c.*190A>G	NP_852004.1:n.*190A>G
XM_005245139.1:c.*63A>G	XP_005245196.1:n.*63A>G
XM_005245140.1:c.*223A>G	XP_005245197.1:n.*223A>G
XM_006711298.1:c.1430A>G	XP_006711361.1:p.Asn477Ser
XM_005245139.2:c.*63A>G	XP_005245196.1:n.*63A>G
XM_005245140.3:c.*223A>G	XP_005245197.1:n.*223A>G
XM_006711298.2:c.1430A>G	XP_006711361.1:p.Asn477Ser
XM_017001199.2:c.1529A>G	XP_016856688.1:p.Asn510Ser
XM_017001200.2:c.1481A>G	XP_016856689.1:p.Asn494Ser
XM_017001201.2:c.*223A>G	XP_016856690.1:n.*223A>G
NM_000565.4:c.1382A>G MANE Select	NP_000556.1:p.Asn461Ser
NM_181359.3:c.*190A>G	NP_852004.1:n.*190A>G
NM_001382769.1:c.1481A>G	NP_001369698.1:p.Asn494Ser
NM_001382770.1:c.1475A>G	NP_001369699.1:p.Asn492Ser
NM_001382771.1:c.1430A>G	NP_001369700.1:p.Asn477Ser
NM_001382772.1:c.1376A>G	NP_001369701.1:p.Asn459Ser
NM_001382773.1:c.*190A>G	NP_001369702.1:n.*190A>G
NM_001382774.1:c.1022A>G	NP_001369703.1:p.Asn341Ser