Canonical Allele Identifier: CA89645084
Gene: DNAJB11 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.186582011C>T
GRCh37 chr3:g.186299800C>T
Revel Score:
ENST00000418776 0.122
gnomAD v2:
3:186299800 C / T
gnomAD v3:
3:186582011 C / T
gnomAD v4:
chr3-186582011-C-T
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000664421
RCV001249131
ClinVar Variation:
549851
dbSNP:
941713150
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186582011C>T , CM000665.2:g.186582011C>T GRCh38
NC_000003.11:g.186299800C>T , CM000665.1:g.186299800C>T GRCh37
NC_000003.10:g.187782494C>T NCBI36
NG_034024.1:g.16336C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265028.8:c.616C>T MANE Select ENSP00000265028.3:p.Arg206Ter
ENST00000464877.2:n.4865C>T
ENST00000495390.2:n.4384C>T
ENST00000679794.1:n.824C>T
ENST00000680338.1:c.*347C>T ENSP00000505624.1:n.*347C>T
ENST00000681475.1:n.228C>T
ENST00000681543.1:n.1840C>T
ENST00000265028.7:c.616C>T ENSP00000265028.3:p.Arg206Ter
ENST00000418776.1:c.17C>T
ENST00000439351.5:c.616C>T ENSP00000414398.1:p.Arg206Ter
ENST00000495390.1:n.3233C>T
NM_016306.5:c.616C>T NP_057390.1:p.Arg206Ter
NM_001378451.1:c.340C>T NP_001365380.1:p.Arg114Ter
NM_016306.6:c.616C>T MANE Select NP_057390.1:p.Arg206Ter
NR_165638.1:n.790C>T
NR_165639.1:n.794C>T
NR_165640.1:n.877C>T
NR_165641.1:n.762C>T
NR_165642.1:n.651C>T
NR_165643.1:n.744C>T
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