{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA407081943",
  "communityStandardTitle": [
    "NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2834364[alleleid]",
        "alleleId": 2834364,
        "preferredName": "NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2675091",
        "RCV": [
          "RCV003476353"
        ],
        "variationId": 2675091
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.51853615G>A?assembly=hg19",
        "id": "chr19:g.51853615G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.51350361G>A?assembly=hg38",
        "id": "chr19:g.51350361G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1985903483",
        "rs": 1985903483
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-51350361-G-A?dataset=gnomad_r4",
        "id": "19-51350361-G-A",
        "variant": "19:51350361 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 51350361,
          "referenceAllele": "G",
          "start": 51350360
        }
      ],
      "hgvs": [
        "NC_000019.10:g.51350361G>A",
        "CM000681.2:g.51350361G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 51853615,
          "referenceAllele": "G",
          "start": 51853614
        }
      ],
      "hgvs": [
        "NC_000019.9:g.51853615G>A",
        "CM000681.1:g.51853615G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 56545427,
          "referenceAllele": "G",
          "start": 56545426
        }
      ],
      "hgvs": [
        "NC_000019.8:g.56545427G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21058,
          "referenceAllele": "C",
          "start": 21057
        }
      ],
      "hgvs": [
        "NG_007115.1:g.21058C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000489"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "C",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003482",
      "geneNCBI_id": 2109,
      "geneSymbol": "ETFB",
      "hgvs": [
        "ENST00000309244.9:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311930.3:p.Gln136Ter",
        "hgvsWellDefined": "ENSP00000311930.3:p.Gln136_Ile255delinsMetThrAlaGlyPheLeuAspTrpProGlnGlyThrPheAlaSerGlnValThrLeuGluGlyAspLysLeuLysValGluArgGluIleAspGlyGlyLeuGluThrLeuArgLeuLysLeuProAlaValValThrAlaAspLeuArgLeuAsnGluProArgTyrAlaThrLeuProAsnIleMetLysAlaLysLysLysLysIleGluValIleLysProGlyAspLeuGlyValAspLeuThrSerLysLeuSerValIleSerValGluAspProProGlnArgThrAlaGlyValLysValGluThrThrGluAspLeuValAlaLysLeuLysGluIleGlyArgIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745526",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000309244.9:c.406C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001985.3:c.406C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311930.3:p.Gln136Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001976.1:p.Gln136Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "referenceAllele": "C",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003482",
      "geneNCBI_id": 2109,
      "geneSymbol": "ETFB",
      "hgvs": [
        "ENST00000309244.8:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311930.3:p.Gln136Ter",
        "hgvsWellDefined": "ENSP00000311930.3:p.Gln136_Ile255delinsMetThrAlaGlyPheLeuAspTrpProGlnGlyThrPheAlaSerGlnValThrLeuGluGlyAspLysLeuLysValGluArgGluIleAspGlyGlyLeuGluThrLeuArgLeuLysLeuProAlaValValThrAlaAspLeuArgLeuAsnGluProArgTyrAlaThrLeuProAsnIleMetLysAlaLysLysLysLysIleGluValIleLysProGlyAspLeuGlyValAspLeuThrSerLysLeuSerValIleSerValGluAspProProGlnArgThrAlaGlyValLysValGluThrThrGluAspLeuValAlaLysLeuLysGluIleGlyArgIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3147,
          "referenceAllele": "C",
          "start": 3146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003482",
      "geneNCBI_id": 2109,
      "geneSymbol": "ETFB",
      "hgvs": [
        "ENST00000354232.8:c.679C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346173.3:p.Gln227Ter",
        "hgvsWellDefined": "ENSP00000346173.3:p.Gln227_Ile346delinsMetThrAlaGlyPheLeuAspTrpProGlnGlyThrPheAlaSerGlnValThrLeuGluGlyAspLysLeuLysValGluArgGluIleAspGlyGlyLeuGluThrLeuArgLeuLysLeuProAlaValValThrAlaAspLeuArgLeuAsnGluProArgTyrAlaThrLeuProAsnIleMetLysAlaLysLysLysLysIleGluValIleLysProGlyAspLeuGlyValAspLeuThrSerLysLeuSerValIleSerValGluAspProProGlnArgThrAlaGlyValLysValGluThrThrGluAspLeuValAlaLysLeuLysGluIleGlyArgIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "referenceAllele": "C",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003482",
      "geneNCBI_id": 2109,
      "geneSymbol": "ETFB",
      "hgvs": [
        "ENST00000593992.1:n.429C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS394443"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 287,
          "referenceAllele": "C",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003482",
      "geneNCBI_id": 2109,
      "geneSymbol": "ETFB",
      "hgvs": [
        "ENST00000596253.1:c.247C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469628.1:p.Gln83Ter",
        "hgvsWellDefined": "ENSP00000469628.1:p.Gln83Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741825131",
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "C",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003482",
      "geneNCBI_id": 2109,
      "geneSymbol": "ETFB",
      "hgvs": [
        "NM_001014763.1:c.679C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001014763.1:p.Gln227Ter",
        "hgvsWellDefined": "NP_001014763.1:p.Gln227_Ile346delinsMetThrAlaGlyPheLeuAspTrpProGlnGlyThrPheAlaSerGlnValThrLeuGluGlyAspLysLeuLysValGluArgGluIleAspGlyGlyLeuGluThrLeuArgLeuLysLeuProAlaValValThrAlaAspLeuArgLeuAsnGluProArgTyrAlaThrLeuProAsnIleMetLysAlaLysLysLysLysIleGluValIleLysProGlyAspLeuGlyValAspLeuThrSerLysLeuSerValIleSerValGluAspProProGlnArgThrAlaGlyValLysValGluThrThrGluAspLeuValAlaLysLeuLysGluIleGlyArgIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829367865",
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "referenceAllele": "C",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003482",
      "geneNCBI_id": 2109,
      "geneSymbol": "ETFB",
      "hgvs": [
        "NM_001985.2:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001976.1:p.Gln136Ter",
        "hgvsWellDefined": "NP_001976.1:p.Gln136_Ile255delinsMetThrAlaGlyPheLeuAspTrpProGlnGlyThrPheAlaSerGlnValThrLeuGluGlyAspLysLeuLysValGluArgGluIleAspGlyGlyLeuGluThrLeuArgLeuLysLeuProAlaValValThrAlaAspLeuArgLeuAsnGluProArgTyrAlaThrLeuProAsnIleMetLysAlaLysLysLysLysIleGluValIleLysProGlyAspLeuGlyValAspLeuThrSerLysLeuSerValIleSerValGluAspProProGlnArgThrAlaGlyValLysValGluThrThrGluAspLeuValAlaLysLeuLysGluIleGlyArgIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 478,
          "referenceAllele": "C",
          "start": 477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003482",
      "geneNCBI_id": 2109,
      "geneSymbol": "ETFB",
      "hgvs": [
        "XM_024451418.1:c.295C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307186.1:p.Gln99Ter",
        "hgvsWellDefined": "XP_024307186.1:p.Gln99_Ile218delinsMetThrAlaGlyPheLeuAspTrpProGlnGlyThrPheAlaSerGlnValThrLeuGluGlyAspLysLeuLysValGluArgGluIleAspGlyGlyLeuGluThrLeuArgLeuLysLeuProAlaValValThrAlaAspLeuArgLeuAsnGluProArgTyrAlaThrLeuProAsnIleMetLysAlaLysLysLysLysIleGluValIleLysProGlyAspLeuGlyValAspLeuThrSerLysLeuSerValIleSerValGluAspProProGlnArgThrAlaGlyValLysValGluThrThrGluAspLeuValAlaLysLeuLysGluIleGlyArgIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584934"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829367865",
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "C",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003482",
      "geneNCBI_id": 2109,
      "geneSymbol": "ETFB",
      "hgvs": [
        "NM_001985.3:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001976.1:p.Gln136Ter",
        "hgvsWellDefined": "NP_001976.1:p.Gln136_Ile255delinsMetThrAlaGlyPheLeuAspTrpProGlnGlyThrPheAlaSerGlnValThrLeuGluGlyAspLysLeuLysValGluArgGluIleAspGlyGlyLeuGluThrLeuArgLeuLysLeuProAlaValValThrAlaAspLeuArgLeuAsnGluProArgTyrAlaThrLeuProAsnIleMetLysAlaLysLysLysLysIleGluValIleLysProGlyAspLeuGlyValAspLeuThrSerLysLeuSerValIleSerValGluAspProProGlnArgThrAlaGlyValLysValGluThrThrGluAspLeuValAlaLysLeuLysGluIleGlyArgIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695421",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000309244.9:c.406C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001985.3:c.406C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311930.3:p.Gln136Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001976.1:p.Gln136Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}