Canonical Allele Identifier: CA342628209

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437611T>C (hg19) ; chr1:g.154465135T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465135T>C , CM000663.2:g.154465135T>C	GRCh38
NC_000001.10:g.154437611T>C , CM000663.1:g.154437611T>C	GRCh37
NC_000001.9:g.152704235T>C	NCBI36
NG_012087.1:g.64943T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1162T>C MANE Select	ENSP00000357470.3:p.Phe388Leu
ENST00000344086.8:c.1068T>C	ENSP00000340589.4:p.Gly356=
ENST00000368485.7:c.1162T>C	ENSP00000357470.3:p.Phe388Leu
ENST00000502679.1:n.475T>C
ENST00000507256.1:n.360T>C
NM_000565.3:c.1162T>C	NP_000556.1:p.Phe388Leu
NM_181359.2:c.1068T>C	NP_852004.1:p.Gly356=
XM_005245139.1:c.926T>C	XP_005245196.1:p.Val309Ala
XM_005245140.1:c.*3T>C	XP_005245197.1:n.*3T>C
XM_006711298.1:c.1210T>C	XP_006711361.1:p.Phe404Leu
XM_006711299.2:c.1116T>C	XP_006711362.1:p.Gly372=
XM_005245139.2:c.926T>C	XP_005245196.1:p.Val309Ala
XM_005245140.3:c.*3T>C	XP_005245197.1:n.*3T>C
XM_006711298.2:c.1210T>C	XP_006711361.1:p.Phe404Leu
XM_006711299.4:c.1116T>C	XP_006711362.1:p.Gly372=
XM_017001199.2:c.1309T>C	XP_016856688.1:p.Phe437Leu
XM_017001200.2:c.1261T>C	XP_016856689.1:p.Phe421Leu
XM_017001201.2:c.*3T>C	XP_016856690.1:n.*3T>C
NM_000565.4:c.1162T>C MANE Select	NP_000556.1:p.Phe388Leu
NM_181359.3:c.1068T>C	NP_852004.1:p.Gly356=
NM_001382769.1:c.1261T>C	NP_001369698.1:p.Phe421Leu
NM_001382770.1:c.1255T>C	NP_001369699.1:p.Phe419Leu
NM_001382771.1:c.1210T>C	NP_001369700.1:p.Phe404Leu
NM_001382772.1:c.1156T>C	NP_001369701.1:p.Phe386Leu
NM_001382773.1:c.1116T>C	NP_001369702.1:p.Gly372=
NM_001382774.1:c.802T>C	NP_001369703.1:p.Phe268Leu