Canonical Allele Identifier: CA1129332

Gene: IL6R

Linked Data

• dbSNP Id: rs748261127
• ExAC: 1:154437704 C / T
• gnomAD v2: 1-154437704-C-T
• gnomAD v3: 1-154465228-C-T
• gnomAD v4: 1-154465228-C-T
• MyVariant Identifiers: chr1:g.154437704C>T (hg19) ; chr1:g.154465228C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465228C>T , CM000663.2:g.154465228C>T	GRCh38
NC_000001.10:g.154437704C>T , CM000663.1:g.154437704C>T	GRCh37
NC_000001.9:g.152704328C>T	NCBI36
NG_012087.1:g.65036C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1255C>T MANE Select	ENSP00000357470.3:p.Arg419Ter
ENST00000344086.8:c.*63C>T	ENSP00000340589.4:n.*63C>T
ENST00000368485.7:c.1255C>T	ENSP00000357470.3:p.Arg419Ter
ENST00000502679.1:n.568C>T
ENST00000507256.1:n.453C>T
NM_000565.3:c.1255C>T	NP_000556.1:p.Arg419Ter
NM_181359.2:c.*63C>T	NP_852004.1:n.*63C>T
XM_005245139.1:c.1019C>T	XP_005245196.1:p.Ser340Leu
XM_005245140.1:c.*96C>T	XP_005245197.1:n.*96C>T
XM_006711298.1:c.1303C>T	XP_006711361.1:p.Arg435Ter
XM_006711299.2:c.*63C>T	XP_006711362.1:n.*63C>T
XM_005245139.2:c.1019C>T	XP_005245196.1:p.Ser340Leu
XM_005245140.3:c.*96C>T	XP_005245197.1:n.*96C>T
XM_006711298.2:c.1303C>T	XP_006711361.1:p.Arg435Ter
XM_006711299.4:c.*63C>T	XP_006711362.1:n.*63C>T
XM_017001199.2:c.1402C>T	XP_016856688.1:p.Arg468Ter
XM_017001200.2:c.1354C>T	XP_016856689.1:p.Arg452Ter
XM_017001201.2:c.*96C>T	XP_016856690.1:n.*96C>T
NM_000565.4:c.1255C>T MANE Select	NP_000556.1:p.Arg419Ter
NM_181359.3:c.*63C>T	NP_852004.1:n.*63C>T
NM_001382769.1:c.1354C>T	NP_001369698.1:p.Arg452Ter
NM_001382770.1:c.1348C>T	NP_001369699.1:p.Arg450Ter
NM_001382771.1:c.1303C>T	NP_001369700.1:p.Arg435Ter
NM_001382772.1:c.1249C>T	NP_001369701.1:p.Arg417Ter
NM_001382773.1:c.*63C>T	NP_001369702.1:n.*63C>T
NM_001382774.1:c.895C>T	NP_001369703.1:p.Arg299Ter