Canonical Allele Identifier: CA342628487

Gene: IL6R

Linked Data

• dbSNP Id: rs1214944137
• gnomAD v2: 1-154437687-T-G
• gnomAD v3: 1-154465211-T-G
• gnomAD v4: 1-154465211-T-G
• MyVariant Identifiers: chr1:g.154437687T>G (hg19) ; chr1:g.154437687_154437698delinsGGGTCCCGGAGA (hg19) ; chr1:g.154465211T>G (hg38) ; chr1:g.154465211_154465222delinsGGGTCCCGGAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465211T>G , CM000663.2:g.154465211T>G	GRCh38
NC_000001.10:g.154437687T>G , CM000663.1:g.154437687T>G	GRCh37
NC_000001.9:g.152704311T>G	NCBI36
NG_012087.1:g.65019T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1238T>G MANE Select	ENSP00000357470.3:p.Leu413Arg
ENST00000344086.8:c.*46T>G	ENSP00000340589.4:n.*46T>G
ENST00000368485.7:c.1238T>G	ENSP00000357470.3:p.Leu413Arg
ENST00000502679.1:n.551T>G
ENST00000507256.1:n.436T>G
NM_000565.3:c.1238T>G	NP_000556.1:p.Leu413Arg
NM_181359.2:c.*46T>G	NP_852004.1:n.*46T>G
XM_005245139.1:c.1002T>G	XP_005245196.1:p.Ala334=
XM_005245140.1:c.*79T>G	XP_005245197.1:n.*79T>G
XM_006711298.1:c.1286T>G	XP_006711361.1:p.Leu429Arg
XM_006711299.2:c.*46T>G	XP_006711362.1:n.*46T>G
XM_005245139.2:c.1002T>G	XP_005245196.1:p.Ala334=
XM_005245140.3:c.*79T>G	XP_005245197.1:n.*79T>G
XM_006711298.2:c.1286T>G	XP_006711361.1:p.Leu429Arg
XM_006711299.4:c.*46T>G	XP_006711362.1:n.*46T>G
XM_017001199.2:c.1385T>G	XP_016856688.1:p.Leu462Arg
XM_017001200.2:c.1337T>G	XP_016856689.1:p.Leu446Arg
XM_017001201.2:c.*79T>G	XP_016856690.1:n.*79T>G
NM_000565.4:c.1238T>G MANE Select	NP_000556.1:p.Leu413Arg
NM_181359.3:c.*46T>G	NP_852004.1:n.*46T>G
NM_001382769.1:c.1337T>G	NP_001369698.1:p.Leu446Arg
NM_001382770.1:c.1331T>G	NP_001369699.1:p.Leu444Arg
NM_001382771.1:c.1286T>G	NP_001369700.1:p.Leu429Arg
NM_001382772.1:c.1232T>G	NP_001369701.1:p.Leu411Arg
NM_001382773.1:c.*46T>G	NP_001369702.1:n.*46T>G
NM_001382774.1:c.878T>G	NP_001369703.1:p.Leu293Arg