{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA789754125",
  "communityStandardTitle": [
    "NM_004453.4(ETFDH):c.405+3A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1016397[alleleid]",
        "alleleId": 1016397,
        "preferredName": "NM_004453.4(ETFDH):c.405+3A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1028248",
        "RCV": [
          "RCV001329258",
          "RCV001509240",
          "RCV001844286"
        ],
        "variationId": 1028248
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.159603579A>G?assembly=hg19",
        "id": "chr4:g.159603579A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.158682427A>G?assembly=hg38",
        "id": "chr4:g.158682427A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/796051965",
        "rs": 796051965
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-158682427-A-G?dataset=gnomad_r3",
        "id": "4-158682427-A-G",
        "variant": "4:158682427 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-158682427-A-G?dataset=gnomad_r4",
        "id": "4-158682427-A-G",
        "variant": "4:158682427 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 158682427,
          "referenceAllele": "A",
          "start": 158682426
        }
      ],
      "hgvs": [
        "NC_000004.12:g.158682427A>G",
        "CM000666.2:g.158682427A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 159603579,
          "referenceAllele": "A",
          "start": 159603578
        }
      ],
      "hgvs": [
        "NC_000004.11:g.159603579A>G",
        "CM000666.1:g.159603579A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "G",
          "end": 159823029,
          "referenceAllele": "A",
          "start": 159823028
        }
      ],
      "hgvs": [
        "NC_000004.10:g.159823029A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 15086,
          "referenceAllele": "A",
          "start": 15085
        }
      ],
      "hgvs": [
        "NG_007078.2:g.15086A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000458"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 659,
          "referenceAllele": "A",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000436096.3:n.659A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 178,
          "endIntronDirection": "-",
          "endIntronOffset": 2164,
          "referenceAllele": "A",
          "start": 178,
          "startIntronDirection": "-",
          "startIntronOffset": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000507475.6:n.179-2165A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825530"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 654,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 654,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000681978.1:n.654+3A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826978"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1437,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 1437,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682178.1:n.1437+3A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 676,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 676,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682345.1:c.*224+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508122.1:n.*224+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827337"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2104,
          "referenceAllele": "A",
          "start": 2103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682409.1:n.2104A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827401"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 736,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 736,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682452.1:n.736+3A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827442"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 596,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 596,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682456.1:c.405+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508240.1:n.405+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827446"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 596,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 596,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682601.1:n.596+3A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827591"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 237,
          "endIntronDirection": "-",
          "endIntronOffset": 2164,
          "referenceAllele": "A",
          "start": 237,
          "startIntronDirection": "-",
          "startIntronOffset": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682734.1:c.-649-2165A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507860.1:n.-649-2165A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827723"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 442,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 442,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682820.1:n.442+3A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827808"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 712,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 712,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000682910.1:n.712+3A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827898"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 590,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 590,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683004.1:c.*242+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506936.1:n.*242+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827991"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 566,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 566,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683079.1:c.405+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507296.1:n.405+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828064"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 529,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 529,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683081.1:c.*242+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507722.1:n.*242+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828066"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 27,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 27,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683123.1:n.27+3A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828108"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 458,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 458,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683305.1:c.222+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508043.1:n.222+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828286"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 162,
          "endIntronDirection": "-",
          "endIntronOffset": 2164,
          "referenceAllele": "A",
          "start": 162,
          "startIntronDirection": "-",
          "startIntronOffset": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683448.1:c.-90-2165A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506931.1:n.-90-2165A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828425"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 572,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 572,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683478.1:c.405+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507793.1:n.405+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 596,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 596,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683483.1:c.405+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507719.1:n.405+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828457"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 528,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 528,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683750.1:n.528+3A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828721"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 184,
          "endIntronDirection": "-",
          "endIntronOffset": 2164,
          "referenceAllele": "A",
          "start": 184,
          "startIntronDirection": "-",
          "startIntronOffset": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683751.1:c.-90-2165A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506944.1:n.-90-2165A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828722"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1724,
          "referenceAllele": "A",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000683799.1:n.1724A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828769"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 785,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 785,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684036.1:c.222+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507276.1:n.222+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828997"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 159,
          "endIntronDirection": "-",
          "endIntronOffset": 2164,
          "referenceAllele": "A",
          "start": 159,
          "startIntronDirection": "-",
          "startIntronOffset": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684129.1:c.-694-2165A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507174.1:n.-694-2165A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 645,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 645,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684209.1:n.645+3A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829166"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 611,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 611,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684296.1:c.405+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507740.1:n.405+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829252"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 566,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 566,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684505.1:c.405+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508237.1:n.405+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829459"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 596,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 596,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684552.1:c.405+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506899.1:n.405+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2133,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 2133,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684611.1:n.2133+3A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829563"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 596,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 596,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684622.1:c.405+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507546.1:n.405+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 974,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 974,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684627.1:c.222+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507471.1:n.222+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 596,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 596,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684641.1:c.405+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507642.1:n.405+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 596,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 596,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684675.1:c.405+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506934.1:n.405+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829626"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 474,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 474,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000684749.1:n.474+3A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829699"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 566,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 566,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.6:c.405+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:n.405+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758258",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.405+3A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.405+3A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:n.405+3A>G"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:n.405+3A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 382,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 382,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000307738.5:c.264+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303552.5:n.264+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 86,
          "endIntronDirection": "+",
          "endIntronOffset": 9937,
          "referenceAllele": "A",
          "start": 86,
          "startIntronDirection": "+",
          "startIntronOffset": 9936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000506422.1:n.86+9937A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 184,
          "endIntronDirection": "-",
          "endIntronOffset": 2164,
          "referenceAllele": "A",
          "start": 184,
          "startIntronDirection": "-",
          "startIntronOffset": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000507475.5:c.-90-2165A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422735.1:n.-90-2165A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS338754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 737,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 737,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000511912.5:c.405+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000426638.1:n.405+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342075"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 483,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 483,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "ENST00000514148.1:n.483+3A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343704"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 620,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 620,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.1:c.264+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:n.264+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021701"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 317,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 317,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281738.1:c.222+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268667.1:n.222+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 761,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 761,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.3:c.405+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:n.405+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029615"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 437,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 437,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "XM_024453935.1:c.222+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309703.1:n.222+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587307"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 566,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 566,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_004453.4:c.405+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004444.2:n.405+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696142",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000511912.6:c.405+3A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004453.4:c.405+3A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000426638.1:n.405+3A>G"
          },
          "RefSeq": {
            "hgvs": "NP_004444.2:n.405+3A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 425,
          "endIntronDirection": "+",
          "endIntronOffset": 3,
          "referenceAllele": "A",
          "start": 425,
          "startIntronDirection": "+",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003483",
      "geneNCBI_id": 2110,
      "geneSymbol": "ETFDH",
      "hgvs": [
        "NM_001281737.2:c.264+3A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268666.1:n.264+3A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715722"
    }
  ],
  "type": "nucleotide"
}