Canonical Allele Identifier: CA342628398

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437647G>A (hg19) ; chr1:g.154465171G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465171G>A , CM000663.2:g.154465171G>A	GRCh38
NC_000001.10:g.154437647G>A , CM000663.1:g.154437647G>A	GRCh37
NC_000001.9:g.152704271G>A	NCBI36
NG_012087.1:g.64979G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1198G>A MANE Select	ENSP00000357470.3:p.Gly400Ser
ENST00000344086.8:c.*6G>A	ENSP00000340589.4:n.*6G>A
ENST00000368485.7:c.1198G>A	ENSP00000357470.3:p.Gly400Ser
ENST00000502679.1:n.511G>A
ENST00000507256.1:n.396G>A
NM_000565.3:c.1198G>A	NP_000556.1:p.Gly400Ser
NM_181359.2:c.*6G>A	NP_852004.1:n.*6G>A
XM_005245139.1:c.962G>A	XP_005245196.1:p.Arg321Lys
XM_005245140.1:c.*39G>A	XP_005245197.1:n.*39G>A
XM_006711298.1:c.1246G>A	XP_006711361.1:p.Gly416Ser
XM_006711299.2:c.*6G>A	XP_006711362.1:n.*6G>A
XM_005245139.2:c.962G>A	XP_005245196.1:p.Arg321Lys
XM_005245140.3:c.*39G>A	XP_005245197.1:n.*39G>A
XM_006711298.2:c.1246G>A	XP_006711361.1:p.Gly416Ser
XM_006711299.4:c.*6G>A	XP_006711362.1:n.*6G>A
XM_017001199.2:c.1345G>A	XP_016856688.1:p.Gly449Ser
XM_017001200.2:c.1297G>A	XP_016856689.1:p.Gly433Ser
XM_017001201.2:c.*39G>A	XP_016856690.1:n.*39G>A
NM_000565.4:c.1198G>A MANE Select	NP_000556.1:p.Gly400Ser
NM_181359.3:c.*6G>A	NP_852004.1:n.*6G>A
NM_001382769.1:c.1297G>A	NP_001369698.1:p.Gly433Ser
NM_001382770.1:c.1291G>A	NP_001369699.1:p.Gly431Ser
NM_001382771.1:c.1246G>A	NP_001369700.1:p.Gly416Ser
NM_001382772.1:c.1192G>A	NP_001369701.1:p.Gly398Ser
NM_001382773.1:c.*6G>A	NP_001369702.1:n.*6G>A
NM_001382774.1:c.838G>A	NP_001369703.1:p.Gly280Ser