Canonical Allele Identifier: CA342628563

Gene: IL6R

Linked Data

• gnomAD v4: 1-154465252-C-G
• MyVariant Identifiers: chr1:g.154437728C>G (hg19) ; chr1:g.154465252C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465252C>G , CM000663.2:g.154465252C>G	GRCh38
NC_000001.10:g.154437728C>G , CM000663.1:g.154437728C>G	GRCh37
NC_000001.9:g.152704352C>G	NCBI36
NG_012087.1:g.65060C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1279C>G MANE Select	ENSP00000357470.3:p.Leu427Val
ENST00000344086.8:c.*87C>G	ENSP00000340589.4:n.*87C>G
ENST00000368485.7:c.1279C>G	ENSP00000357470.3:p.Leu427Val
ENST00000507256.1:n.477C>G
NM_000565.3:c.1279C>G	NP_000556.1:p.Leu427Val
NM_181359.2:c.*87C>G	NP_852004.1:n.*87C>G
XM_005245139.1:c.1043C>G	XP_005245196.1:p.Ser348Cys
XM_005245140.1:c.*120C>G	XP_005245197.1:n.*120C>G
XM_006711298.1:c.1327C>G	XP_006711361.1:p.Leu443Val
XM_005245139.2:c.1043C>G	XP_005245196.1:p.Ser348Cys
XM_005245140.3:c.*120C>G	XP_005245197.1:n.*120C>G
XM_006711298.2:c.1327C>G	XP_006711361.1:p.Leu443Val
XM_017001199.2:c.1426C>G	XP_016856688.1:p.Leu476Val
XM_017001200.2:c.1378C>G	XP_016856689.1:p.Leu460Val
XM_017001201.2:c.*120C>G	XP_016856690.1:n.*120C>G
NM_000565.4:c.1279C>G MANE Select	NP_000556.1:p.Leu427Val
NM_181359.3:c.*87C>G	NP_852004.1:n.*87C>G
NM_001382769.1:c.1378C>G	NP_001369698.1:p.Leu460Val
NM_001382770.1:c.1372C>G	NP_001369699.1:p.Leu458Val
NM_001382771.1:c.1327C>G	NP_001369700.1:p.Leu443Val
NM_001382772.1:c.1273C>G	NP_001369701.1:p.Leu425Val
NM_001382773.1:c.*87C>G	NP_001369702.1:n.*87C>G
NM_001382774.1:c.919C>G	NP_001369703.1:p.Leu307Val