Canonical Allele Identifier: CA342628252

Gene: IL6R

Linked Data

• gnomAD v4: 1-154465144-A-C
• MyVariant Identifiers: chr1:g.154437620A>C (hg19) ; chr1:g.154465144A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465144A>C , CM000663.2:g.154465144A>C	GRCh38
NC_000001.10:g.154437620A>C , CM000663.1:g.154437620A>C	GRCh37
NC_000001.9:g.152704244A>C	NCBI36
NG_012087.1:g.64952A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1171A>C MANE Select	ENSP00000357470.3:p.Thr391Pro
ENST00000344086.8:c.1077A>C	ENSP00000340589.4:p.Arg359Ser
ENST00000368485.7:c.1171A>C	ENSP00000357470.3:p.Thr391Pro
ENST00000502679.1:n.484A>C
ENST00000507256.1:n.369A>C
NM_000565.3:c.1171A>C	NP_000556.1:p.Thr391Pro
NM_181359.2:c.1077A>C	NP_852004.1:p.Arg359Ser
XM_005245139.1:c.935A>C	XP_005245196.1:p.Asp312Ala
XM_005245140.1:c.*12A>C	XP_005245197.1:n.*12A>C
XM_006711298.1:c.1219A>C	XP_006711361.1:p.Thr407Pro
XM_006711299.2:c.1125A>C	XP_006711362.1:p.Arg375Ser
XM_005245139.2:c.935A>C	XP_005245196.1:p.Asp312Ala
XM_005245140.3:c.*12A>C	XP_005245197.1:n.*12A>C
XM_006711298.2:c.1219A>C	XP_006711361.1:p.Thr407Pro
XM_006711299.4:c.1125A>C	XP_006711362.1:p.Arg375Ser
XM_017001199.2:c.1318A>C	XP_016856688.1:p.Thr440Pro
XM_017001200.2:c.1270A>C	XP_016856689.1:p.Thr424Pro
XM_017001201.2:c.*12A>C	XP_016856690.1:n.*12A>C
NM_000565.4:c.1171A>C MANE Select	NP_000556.1:p.Thr391Pro
NM_181359.3:c.1077A>C	NP_852004.1:p.Arg359Ser
NM_001382769.1:c.1270A>C	NP_001369698.1:p.Thr424Pro
NM_001382770.1:c.1264A>C	NP_001369699.1:p.Thr422Pro
NM_001382771.1:c.1219A>C	NP_001369700.1:p.Thr407Pro
NM_001382772.1:c.1165A>C	NP_001369701.1:p.Thr389Pro
NM_001382773.1:c.1125A>C	NP_001369702.1:p.Arg375Ser
NM_001382774.1:c.811A>C	NP_001369703.1:p.Thr271Pro