Canonical Allele Identifier: CA342628554

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437723T>C (hg19) ; chr1:g.154465247T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465247T>C , CM000663.2:g.154465247T>C	GRCh38
NC_000001.10:g.154437723T>C , CM000663.1:g.154437723T>C	GRCh37
NC_000001.9:g.152704347T>C	NCBI36
NG_012087.1:g.65055T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1274T>C MANE Select	ENSP00000357470.3:p.Val425Ala
ENST00000344086.8:c.*82T>C	ENSP00000340589.4:n.*82T>C
ENST00000368485.7:c.1274T>C	ENSP00000357470.3:p.Val425Ala
ENST00000502679.1:n.587T>C
ENST00000507256.1:n.472T>C
NM_000565.3:c.1274T>C	NP_000556.1:p.Val425Ala
NM_181359.2:c.*82T>C	NP_852004.1:n.*82T>C
XM_005245139.1:c.1038T>C	XP_005245196.1:p.Cys346=
XM_005245140.1:c.*115T>C	XP_005245197.1:n.*115T>C
XM_006711298.1:c.1322T>C	XP_006711361.1:p.Val441Ala
XM_006711299.2:c.*82T>C	XP_006711362.1:n.*82T>C
XM_005245139.2:c.1038T>C	XP_005245196.1:p.Cys346=
XM_005245140.3:c.*115T>C	XP_005245197.1:n.*115T>C
XM_006711298.2:c.1322T>C	XP_006711361.1:p.Val441Ala
XM_006711299.4:c.*82T>C	XP_006711362.1:n.*82T>C
XM_017001199.2:c.1421T>C	XP_016856688.1:p.Val474Ala
XM_017001200.2:c.1373T>C	XP_016856689.1:p.Val458Ala
XM_017001201.2:c.*115T>C	XP_016856690.1:n.*115T>C
NM_000565.4:c.1274T>C MANE Select	NP_000556.1:p.Val425Ala
NM_181359.3:c.*82T>C	NP_852004.1:n.*82T>C
NM_001382769.1:c.1373T>C	NP_001369698.1:p.Val458Ala
NM_001382770.1:c.1367T>C	NP_001369699.1:p.Val456Ala
NM_001382771.1:c.1322T>C	NP_001369700.1:p.Val441Ala
NM_001382772.1:c.1268T>C	NP_001369701.1:p.Val423Ala
NM_001382773.1:c.*82T>C	NP_001369702.1:n.*82T>C
NM_001382774.1:c.914T>C	NP_001369703.1:p.Val305Ala