Canonical Allele Identifier: CA342628370

Gene: IL6R

Linked Data

• MyVariant Identifiers: chr1:g.154437640G>C (hg19) ; chr1:g.154465164G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465164G>C , CM000663.2:g.154465164G>C	GRCh38
NC_000001.10:g.154437640G>C , CM000663.1:g.154437640G>C	GRCh37
NC_000001.9:g.152704264G>C	NCBI36
NG_012087.1:g.64972G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1191G>C MANE Select	ENSP00000357470.3:p.Leu397=
ENST00000344086.8:c.1097G>C	ENSP00000340589.4:p.Ter366Ser
ENST00000368485.7:c.1191G>C	ENSP00000357470.3:p.Leu397=
ENST00000502679.1:n.504G>C
ENST00000507256.1:n.389G>C
NM_000565.3:c.1191G>C	NP_000556.1:p.Leu397=
NM_181359.2:c.1097G>C	NP_852004.1:p.Ter366Ser
XM_005245139.1:c.955G>C	XP_005245196.1:p.Glu319Gln
XM_005245140.1:c.*32G>C	XP_005245197.1:n.*32G>C
XM_006711298.1:c.1239G>C	XP_006711361.1:p.Leu413=
XM_006711299.2:c.1145G>C	XP_006711362.1:p.Ter382Ser
XM_005245139.2:c.955G>C	XP_005245196.1:p.Glu319Gln
XM_005245140.3:c.*32G>C	XP_005245197.1:n.*32G>C
XM_006711298.2:c.1239G>C	XP_006711361.1:p.Leu413=
XM_006711299.4:c.1145G>C	XP_006711362.1:p.Ter382Ser
XM_017001199.2:c.1338G>C	XP_016856688.1:p.Leu446=
XM_017001200.2:c.1290G>C	XP_016856689.1:p.Leu430=
XM_017001201.2:c.*32G>C	XP_016856690.1:n.*32G>C
NM_000565.4:c.1191G>C MANE Select	NP_000556.1:p.Leu397=
NM_181359.3:c.1097G>C	NP_852004.1:p.Ter366Ser
NM_001382769.1:c.1290G>C	NP_001369698.1:p.Leu430=
NM_001382770.1:c.1284G>C	NP_001369699.1:p.Leu428=
NM_001382771.1:c.1239G>C	NP_001369700.1:p.Leu413=
NM_001382772.1:c.1185G>C	NP_001369701.1:p.Leu395=
NM_001382773.1:c.1145G>C	NP_001369702.1:p.Ter382Ser
NM_001382774.1:c.831G>C	NP_001369703.1:p.Leu277=