Canonical Allele Identifier: CA1129278

Gene: IL6R

Linked Data

• ClinVar Variation Id: 1990378
• ClinVar RCV Id: RCV002800854
• dbSNP Id: rs766192454
• ExAC: 1:154427021 C / G
• gnomAD v2: 1-154427021-C-G
• gnomAD v3: 1-154454545-C-G
• gnomAD v4: 1-154454545-C-G
• MyVariant Identifiers: chr1:g.154427021C>G (hg19) ; chr1:g.154454545C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154454545C>G , CM000663.2:g.154454545C>G	GRCh38
NC_000001.10:g.154427021C>G , CM000663.1:g.154427021C>G	GRCh37
NC_000001.9:g.152693645C>G	NCBI36
NG_012087.1:g.54353C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1124C>G MANE Select	ENSP00000357470.3:p.Ala375Gly
ENST00000344086.8:c.1066+4565C>G	ENSP00000340589.4:n.1066+4565C>G
ENST00000368485.7:c.1124C>G	ENSP00000357470.3:p.Ala375Gly
ENST00000502679.1:n.437C>G
ENST00000507256.1:n.322C>G
ENST00000515190.1:c.532C>G
NM_000565.3:c.1124C>G	NP_000556.1:p.Ala375Gly
NM_181359.2:c.1066+4565C>G	NP_852004.1:n.1066+4565C>G
XM_005245139.1:c.924+4565C>G	XP_005245196.1:n.924+4565C>G
XM_005245140.1:c.982C>G	XP_005245197.1:p.Pro328Ala
XM_006711298.1:c.1172C>G	XP_006711361.1:p.Ala391Gly
XM_006711299.2:c.1114+4565C>G	XP_006711362.1:n.1114+4565C>G
XM_005245139.2:c.924+4565C>G	XP_005245196.1:n.924+4565C>G
XM_005245140.3:c.982C>G	XP_005245197.1:p.Pro328Ala
XM_006711298.2:c.1172C>G	XP_006711361.1:p.Ala391Gly
XM_006711299.4:c.1114+4565C>G	XP_006711362.1:n.1114+4565C>G
XM_017001199.2:c.1271C>G	XP_016856688.1:p.Ala424Gly
XM_017001200.2:c.1223C>G	XP_016856689.1:p.Ala408Gly
XM_017001201.2:c.1081C>G	XP_016856690.1:p.Pro361Ala
NM_000565.4:c.1124C>G MANE Select	NP_000556.1:p.Ala375Gly
NM_181359.3:c.1066+4565C>G	NP_852004.1:n.1066+4565C>G
NM_001382769.1:c.1223C>G	NP_001369698.1:p.Ala408Gly
NM_001382770.1:c.1217C>G	NP_001369699.1:p.Ala406Gly
NM_001382771.1:c.1172C>G	NP_001369700.1:p.Ala391Gly
NM_001382772.1:c.1118C>G	NP_001369701.1:p.Ala373Gly
NM_001382773.1:c.1114+4565C>G	NP_001369702.1:n.1114+4565C>G
NM_001382774.1:c.764C>G	NP_001369703.1:p.Ala255Gly