Canonical Allele Identifier: CA1129340

Gene: IL6R

Linked Data

• dbSNP Id: rs768275273
• ExAC: 1:154437744 T / C
• gnomAD v2: 1-154437744-T-C
• gnomAD v4: 1-154465268-T-C
• MyVariant Identifiers: chr1:g.154437744T>C (hg19) ; chr1:g.154465268T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.154465268T>C , CM000663.2:g.154465268T>C	GRCh38
NC_000001.10:g.154437744T>C , CM000663.1:g.154437744T>C	GRCh37
NC_000001.9:g.152704368T>C	NCBI36
NG_012087.1:g.65076T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368485.8:c.1295T>C MANE Select	ENSP00000357470.3:p.Val432Ala
ENST00000344086.8:c.*103T>C	ENSP00000340589.4:n.*103T>C
ENST00000368485.7:c.1295T>C	ENSP00000357470.3:p.Val432Ala
ENST00000507256.1:n.493T>C
NM_000565.3:c.1295T>C	NP_000556.1:p.Val432Ala
NM_181359.2:c.*103T>C	NP_852004.1:n.*103T>C
XM_005245139.1:c.1059T>C	XP_005245196.1:p.Gly353=
XM_005245140.1:c.*136T>C	XP_005245197.1:n.*136T>C
XM_006711298.1:c.1343T>C	XP_006711361.1:p.Val448Ala
XM_005245139.2:c.1059T>C	XP_005245196.1:p.Gly353=
XM_005245140.3:c.*136T>C	XP_005245197.1:n.*136T>C
XM_006711298.2:c.1343T>C	XP_006711361.1:p.Val448Ala
XM_017001199.2:c.1442T>C	XP_016856688.1:p.Val481Ala
XM_017001200.2:c.1394T>C	XP_016856689.1:p.Val465Ala
XM_017001201.2:c.*136T>C	XP_016856690.1:n.*136T>C
NM_000565.4:c.1295T>C MANE Select	NP_000556.1:p.Val432Ala
NM_181359.3:c.*103T>C	NP_852004.1:n.*103T>C
NM_001382769.1:c.1394T>C	NP_001369698.1:p.Val465Ala
NM_001382770.1:c.1388T>C	NP_001369699.1:p.Val463Ala
NM_001382771.1:c.1343T>C	NP_001369700.1:p.Val448Ala
NM_001382772.1:c.1289T>C	NP_001369701.1:p.Val430Ala
NM_001382773.1:c.*103T>C	NP_001369702.1:n.*103T>C
NM_001382774.1:c.935T>C	NP_001369703.1:p.Val312Ala