{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1865421962",
  "communityStandardTitle": [
    "NM_000136.3(FANCC):c.1069C= (p.Gln357=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/759900071",
        "rs": 759900071
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 95117318,
          "referenceAllele": "G",
          "start": 95117317
        }
      ],
      "hgvs": [
        "NC_000009.12:g.95117318G=",
        "CM000671.2:g.95117318G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 97879600,
          "referenceAllele": "G",
          "start": 97879599
        }
      ],
      "hgvs": [
        "NC_000009.11:g.97879600G=",
        "CM000671.1:g.97879600G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 96919421,
          "referenceAllele": "G",
          "start": 96919420
        }
      ],
      "hgvs": [
        "NC_000009.10:g.96919421G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 205392,
          "referenceAllele": "C",
          "start": 205391
        }
      ],
      "hgvs": [
        "NG_011707.1:g.205392C=",
        "LRG_497:g.205392C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001916"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 410,
          "endIntronDirection": "-",
          "endIntronOffset": 29892,
          "referenceAllele": "G",
          "start": 410,
          "startIntronDirection": "-",
          "startIntronOffset": 29893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001361",
      "geneNCBI_id": 84909,
      "geneSymbol": "AOPEP",
      "hgvs": [
        "ENST00000710812.1:n.411-29893G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS914558"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1331,
          "referenceAllele": "C",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000289081.8:c.1069C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289081.3:p.Gln357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743967",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289081.8:c.1069C="
          },
          "RefSeq": {
            "hgvs": "NM_000136.3:c.1069C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289081.3:p.Gln357="
          },
          "RefSeq": {
            "hgvs": "NP_000127.2:p.Gln357="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1273,
          "referenceAllele": "C",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000375305.6:c.1069C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364454.1:p.Gln357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751590"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1293,
          "referenceAllele": "C",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000490972.7:c.1069C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479931.1:p.Gln357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757658"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1214,
          "referenceAllele": "C",
          "start": 1213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000649334.1:c.1214C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497735.1:n.1214C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000289081.7:c.1069C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289081.3:p.Gln357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1244,
          "referenceAllele": "C",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000375305.5:c.1069C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364454.1:p.Gln357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270650"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 396,
          "referenceAllele": "C",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000464627.5:n.396C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1065,
          "referenceAllele": "C",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000464653.1:n.1065C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308432"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 424,
          "referenceAllele": "C",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000477942.5:n.424C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 254,
          "referenceAllele": "C",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000480712.5:n.254C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320797"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1331,
          "referenceAllele": "C",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "ENST00000490972.6:c.1069C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479931.1:p.Gln357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS328683"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825055881",
      "coordinates": [
        {
          "allele": "C",
          "end": 1331,
          "referenceAllele": "C",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_000136.2:c.1069C=",
        "LRG_497t1:c.1069C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000127.2:p.Gln357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006198"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826331394",
      "coordinates": [
        {
          "allele": "C",
          "end": 1273,
          "referenceAllele": "C",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243743.1:c.1069C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230672.1:p.Gln357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018579"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826334003",
      "coordinates": [
        {
          "allele": "C",
          "end": 1331,
          "referenceAllele": "C",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243744.1:c.1069C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230673.1:p.Gln357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018580"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1433,
          "referenceAllele": "C",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_005251802.2:c.388C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005251859.1:p.Gln130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059679"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1166,
          "referenceAllele": "C",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717001.1:c.904C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717064.1:p.Gln302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071945"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1331,
          "referenceAllele": "C",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717002.2:c.1069C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717065.1:p.Gln357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071946"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1258,
          "endIntronDirection": "-",
          "endIntronOffset": 2607,
          "referenceAllele": "C",
          "start": 1258,
          "startIntronDirection": "-",
          "startIntronOffset": 2608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717004.2:c.997-2608C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717067.1:n.997-2608C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071947"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518365.1:c.1069C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516667.1:p.Gln357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1331,
          "referenceAllele": "C",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518366.1:c.1069C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516668.1:p.Gln357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085540"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1389,
          "referenceAllele": "C",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518367.1:c.613C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516669.1:p.Gln205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085541"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2602,
          "endIntronDirection": "-",
          "endIntronOffset": 29892,
          "referenceAllele": "G",
          "start": 2602,
          "startIntronDirection": "-",
          "startIntronOffset": 29893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001361",
      "geneNCBI_id": 84909,
      "geneSymbol": "AOPEP",
      "hgvs": [
        "XM_011519121.1:c.2320-29893G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517423.1:n.2320-29893G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086294"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1433,
          "referenceAllele": "C",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_005251802.3:c.388C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005251859.1:p.Gln130="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533672"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1166,
          "referenceAllele": "C",
          "start": 1165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717001.3:c.904C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717064.1:p.Gln302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1331,
          "referenceAllele": "C",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717002.4:c.1069C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717065.1:p.Gln357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539305"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1258,
          "endIntronDirection": "-",
          "endIntronOffset": 2607,
          "referenceAllele": "C",
          "start": 1258,
          "startIntronDirection": "-",
          "startIntronOffset": 2608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_006717004.4:c.997-2608C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006717067.1:n.997-2608C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539306"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3140,
          "referenceAllele": "C",
          "start": 3139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518365.3:c.1069C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516667.1:p.Gln357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1331,
          "referenceAllele": "C",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518366.3:c.1069C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516668.1:p.Gln357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544882"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1443,
          "referenceAllele": "C",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_011518367.2:c.613C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011516669.1:p.Gln205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544883"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2537,
          "endIntronDirection": "-",
          "endIntronOffset": 29892,
          "referenceAllele": "G",
          "start": 2537,
          "startIntronDirection": "-",
          "startIntronOffset": 29893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001361",
      "geneNCBI_id": 84909,
      "geneSymbol": "AOPEP",
      "hgvs": [
        "XM_011519121.3:c.2320-29893G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011517423.1:n.2320-29893G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545231"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1460,
          "referenceAllele": "C",
          "start": 1459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_017014452.2:c.613C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016869941.1:p.Gln205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567418"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1405,
          "referenceAllele": "C",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_017014453.1:c.613C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016869942.1:p.Gln205="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567419"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1332,
          "referenceAllele": "C",
          "start": 1331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_017014454.1:c.448C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016869943.1:p.Gln150="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1305,
          "referenceAllele": "C",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "XM_024447451.1:c.1069C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024303219.1:p.Gln357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825055881",
      "coordinates": [
        {
          "allele": "C",
          "end": 1331,
          "referenceAllele": "C",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_000136.3:c.1069C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000127.2:p.Gln357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674720",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289081.8:c.1069C="
          },
          "RefSeq": {
            "hgvs": "NM_000136.3:c.1069C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289081.3:p.Gln357="
          },
          "RefSeq": {
            "hgvs": "NP_000127.2:p.Gln357="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826331394",
      "coordinates": [
        {
          "allele": "C",
          "end": 1273,
          "referenceAllele": "C",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243743.2:c.1069C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230672.1:p.Gln357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714504"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826334003",
      "coordinates": [
        {
          "allele": "C",
          "end": 1331,
          "referenceAllele": "C",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003584",
      "geneNCBI_id": 2176,
      "geneSymbol": "FANCC",
      "hgvs": [
        "NM_001243744.2:c.1069C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001230673.1:p.Gln357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714505"
    }
  ],
  "type": "nucleotide"
}