Canonical Allele Identifier: CA30816632

Gene: IL6R

Linked Data

• ClinVar Variation Id: 2227191
• ClinVar RCV Id: RCV004089157
• dbSNP Id: rs201626760
• gnomAD v2: 1-154437814-C-G
• gnomAD v3: 1-154465338-C-G
• gnomAD v4: 1-154465338-C-G
• MyVariant Identifiers: chr1:g.154437814C>G (hg19) ; chr1:g.154465338C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465338C>G , CM000663.2:g.154465338C>G	GRCh38
NC_000001.10:g.154437814C>G , CM000663.1:g.154437814C>G	GRCh37
NC_000001.9:g.152704438C>G	NCBI36
NG_012087.1:g.65146C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1365C>G MANE Select	ENSP00000357470.3:p.Ser455Arg
ENST00000344086.8:c.*173C>G	ENSP00000340589.4:n.*173C>G
ENST00000368485.7:c.1365C>G	ENSP00000357470.3:p.Ser455Arg
NM_000565.3:c.1365C>G	NP_000556.1:p.Ser455Arg
NM_181359.2:c.*173C>G	NP_852004.1:n.*173C>G
XM_005245139.1:c.*46C>G	XP_005245196.1:n.*46C>G
XM_005245140.1:c.*206C>G	XP_005245197.1:n.*206C>G
XM_006711298.1:c.1413C>G	XP_006711361.1:p.Ser471Arg
XM_005245139.2:c.*46C>G	XP_005245196.1:n.*46C>G
XM_005245140.3:c.*206C>G	XP_005245197.1:n.*206C>G
XM_006711298.2:c.1413C>G	XP_006711361.1:p.Ser471Arg
XM_017001199.2:c.1512C>G	XP_016856688.1:p.Ser504Arg
XM_017001200.2:c.1464C>G	XP_016856689.1:p.Ser488Arg
XM_017001201.2:c.*206C>G	XP_016856690.1:n.*206C>G
NM_000565.4:c.1365C>G MANE Select	NP_000556.1:p.Ser455Arg
NM_181359.3:c.*173C>G	NP_852004.1:n.*173C>G
NM_001382769.1:c.1464C>G	NP_001369698.1:p.Ser488Arg
NM_001382770.1:c.1458C>G	NP_001369699.1:p.Ser486Arg
NM_001382771.1:c.1413C>G	NP_001369700.1:p.Ser471Arg
NM_001382772.1:c.1359C>G	NP_001369701.1:p.Ser453Arg
NM_001382773.1:c.*173C>G	NP_001369702.1:n.*173C>G
NM_001382774.1:c.1005C>G	NP_001369703.1:p.Ser335Arg