Canonical Allele Identifier: CA1129374
Gene: IL6R HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.154465420T>C
GRCh37 chr1:g.154437896T>C
gnomAD v2:
1:154437896 T / C
gnomAD v3:
1:154465420 T / C
gnomAD v4:
chr1-154465420-T-C
Joint Max Group AF 0.82893313 (AMR)
Genomes Max Group AF 0.82735204 (AMR)
Exomes Max Group AF 0.82644806 (AMR)
ClinVar RCV:
RCV003489275
ClinVar Variation:
2688366
dbSNP:
2229238
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154465420T>C , CM000663.2:g.154465420T>C GRCh38
NC_000001.10:g.154437896T>C , CM000663.1:g.154437896T>C GRCh37
NC_000001.9:g.152704520T>C NCBI36
NG_012087.1:g.65228T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368485.8:c.*40T>C MANE Select ENSP00000357470.3:n.*40T>C
ENST00000344086.8:c.*255T>C ENSP00000340589.4:n.*255T>C
ENST00000368485.7:c.*40T>C ENSP00000357470.3:n.*40T>C
NM_000565.3:c.*40T>C NP_000556.1:n.*40T>C
NM_181359.2:c.*255T>C NP_852004.1:n.*255T>C
XM_005245139.1:c.*128T>C XP_005245196.1:n.*128T>C
XM_005245140.1:c.*288T>C XP_005245197.1:n.*288T>C
XM_006711298.1:c.*40T>C XP_006711361.1:n.*40T>C
XM_005245139.2:c.*128T>C XP_005245196.1:n.*128T>C
XM_005245140.3:c.*288T>C XP_005245197.1:n.*288T>C
XM_006711298.2:c.*40T>C XP_006711361.1:n.*40T>C
XM_017001199.2:c.*40T>C XP_016856688.1:n.*40T>C
XM_017001200.2:c.*40T>C XP_016856689.1:n.*40T>C
XM_017001201.2:c.*288T>C XP_016856690.1:n.*288T>C
NM_000565.4:c.*40T>C MANE Select NP_000556.1:n.*40T>C
NM_181359.3:c.*255T>C NP_852004.1:n.*255T>C
NM_001382769.1:c.*40T>C NP_001369698.1:n.*40T>C
NM_001382770.1:c.*40T>C NP_001369699.1:n.*40T>C
NM_001382771.1:c.*40T>C NP_001369700.1:n.*40T>C
NM_001382772.1:c.*40T>C NP_001369701.1:n.*40T>C
NM_001382773.1:c.*255T>C NP_001369702.1:n.*255T>C
NM_001382774.1:c.*40T>C NP_001369703.1:n.*40T>C
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