Canonical Allele Identifier: CA7484883
Gene: DNAJC17 HGNC NCBI
GCHFR HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.40767332T>C
GRCh37 chr15:g.41059530T>C
Revel Score:
ENST00000260447 (MANE Select) 0.948
gnomAD v2:
15:41059530 T / C
gnomAD v3:
15:40767332 T / C
gnomAD v4:
chr15-40767332-T-C
Joint Max Group AF 0.00016886 (NFE)
Genomes Max Group AF 0.00009047 (NFE)
Exomes Max Group AF 0.00017013 (NFE)
ClinVar RCV:
RCV004122791
ClinVar Variation:
2266868
dbSNP:
202144307
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40767332T>C , CM000677.2:g.40767332T>C GRCh38
NC_000015.9:g.41059530T>C , CM000677.1:g.41059530T>C GRCh37
NC_000015.8:g.38846822T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000220496.9:c.*608A>G (DNAJC17) MANE Select ENSP00000220496.4:n.*608A>G
ENST00000260447.6:c.238T>C (GCHFR) MANE Select ENSP00000260447.4:p.Cys80Arg
ENST00000220496.8:c.*608A>G (DNAJC17) ENSP00000220496.4:n.*608A>G
ENST00000260447.5:c.238T>C (GCHFR) ENSP00000260447.4:p.Cys80Arg
ENST00000558467.1:c.187T>C (GCHFR) ENSP00000453640.1:p.Cys63Arg
ENST00000558670.1:c.*101T>C (GCHFR) ENSP00000477896.1:n.*101T>C
ENST00000559445.1:c.205T>C (GCHFR) ENSP00000453871.1:p.Cys69Arg
ENST00000559932.1:c.187T>C (GCHFR) ENSP00000454195.1:p.Cys63Arg
NM_005258.2:c.238T>C (GCHFR) NP_005249.1:p.Cys80Arg
NM_005258.3:c.238T>C (GCHFR) MANE Select NP_005249.1:p.Cys80Arg
NM_018163.3:c.*608A>G (DNAJC17) MANE Select NP_060633.1:n.*608A>G
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