Canonical Allele Identifier: CA4185468
Gene: IL6 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.22731420T>A
GRCh37 chr7:g.22771039T>A
Revel Score:
ENST00000404625 0.025
ENST00000258743 (MANE Select) 0.025
ENST00000407492 0.025
ENST00000401630 0.025
gnomAD v2:
7:22771039 T / A
gnomAD v3:
7:22731420 T / A
gnomAD v4:
chr7-22731420-T-A
Joint Max Group AF 0.12023253 (AMR)
Genomes Max Group AF 0.09375781 (AMR)
Exomes Max Group AF 0.12935062 (AMR)
dbSNP:
13306435
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.22731420T>A , CM000669.2:g.22731420T>A GRCh38
NC_000007.13:g.22771039T>A , CM000669.1:g.22771039T>A GRCh37
NC_000007.12:g.22737564T>A NCBI36
NG_011640.1:g.9274T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258743.10:c.486T>A MANE Select ENSP00000258743.5:p.Asp162Glu
ENST00000258743.9:c.486T>A ENSP00000258743.5:p.Asp162Glu
ENST00000401630.7:c.417T>A ENSP00000384928.3:p.Asp139Glu
ENST00000404625.5:c.486T>A ENSP00000385675.1:p.Asp162Glu
ENST00000407492.5:c.258T>A ENSP00000385043.1:p.Asp86Glu
ENST00000485300.1:n.711T>A
NM_000600.3:c.486T>A NP_000591.1:p.Asp162Glu
XM_011515390.1:c.486T>A XP_011513692.1:p.Asp162Glu
XM_011515391.1:c.258T>A XP_011513693.1:p.Asp86Glu
NM_000600.4:c.486T>A NP_000591.1:p.Asp162Glu
NM_001318095.1:c.258T>A NP_001305024.1:p.Asp86Glu
XM_011515390.2:c.486T>A XP_011513692.1:p.Asp162Glu
NM_000600.5:c.486T>A MANE Select NP_000591.1:p.Asp162Glu
NM_001318095.2:c.258T>A NP_001305024.1:p.Asp86Glu
NM_001371096.1:c.417T>A NP_001358025.1:p.Asp139Glu
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