{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4298021",
  "communityStandardTitle": [
    "NM_000265.7(NCF1):c.108G>A (p.Ser36=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1258804",
        "active": true,
        "id": "COSM1258804"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=614314[alleleid]",
        "alleleId": 614314,
        "preferredName": "NM_000265.7(NCF1):c.108G>A (p.Ser36=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/625985",
        "RCV": [
          "RCV000768029"
        ],
        "variationId": 625985
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-74191648-G-A",
        "id": "7-74191648-G-A",
        "variant": "7:74191648 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.74191648G>A?assembly=hg19",
        "id": "chr7:g.74191648G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.74777302G>A?assembly=hg38",
        "id": "chr7:g.74777302G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146173318",
        "rs": 146173318
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-74191648-G-A?dataset=gnomad_r2_1",
        "id": "7-74191648-G-A",
        "variant": "7:74191648 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-74777302-G-A?dataset=gnomad_r3",
        "id": "7-74777302-G-A",
        "variant": "7:74777302 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-74777302-G-A?dataset=gnomad_r4",
        "id": "7-74777302-G-A",
        "variant": "7:74777302 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 74777302,
          "referenceAllele": "G",
          "start": 74777301
        }
      ],
      "hgvs": [
        "NC_000007.14:g.74777302G>A",
        "CM000669.2:g.74777302G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 74191648,
          "referenceAllele": "G",
          "start": 74191647
        }
      ],
      "hgvs": [
        "NC_000007.13:g.74191648G>A",
        "CM000669.1:g.74191648G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 73829584,
          "referenceAllele": "G",
          "start": 73829583
        }
      ],
      "hgvs": [
        "NC_000007.12:g.73829584G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8339,
          "referenceAllele": "G",
          "start": 8338
        }
      ],
      "hgvs": [
        "NG_009078.2:g.8339G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001414"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 129,
          "referenceAllele": "G",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "ENST00000289473.11:c.108G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289473.4:p.Ser36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823698",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289473.11:c.108G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000265.7:c.108G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289473.4:p.Ser36="
          },
          "RefSeq": {
            "hgvs": "NP_000256.4:p.Ser36="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 178,
          "referenceAllele": "G",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "ENST00000289473.10:c.108G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289473.4:p.Ser36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 178,
          "referenceAllele": "G",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "ENST00000289473.8:c.108G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000289473.4:p.Ser36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253579"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 129,
          "referenceAllele": "G",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "ENST00000398421.6:n.129G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS278259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34,
          "referenceAllele": "G",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "ENST00000433458.5:c.34G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS292553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36,
          "referenceAllele": "G",
          "start": 35
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "ENST00000438106.5:n.36G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS294770"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34,
          "referenceAllele": "G",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "ENST00000442021.6:c.34G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS296685"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 81,
          "referenceAllele": "G",
          "start": 80
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "ENST00000443956.7:n.81G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS297583"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 129,
          "referenceAllele": "G",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "ENST00000449343.6:n.129G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS300174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34,
          "referenceAllele": "G",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "ENST00000455062.2:n.34G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS302855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 34,
          "referenceAllele": "G",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "ENST00000464878.5:c.34G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825122910",
      "coordinates": [
        {
          "allele": "A",
          "end": 178,
          "referenceAllele": "G",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "NM_000265.5:c.108G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000256.4:p.Ser36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163,
          "referenceAllele": "G",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "XM_005250543.3:c.108G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250600.2:p.Ser36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059213"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163,
          "referenceAllele": "G",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "XM_005250544.3:c.108G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250601.2:p.Ser36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163,
          "referenceAllele": "G",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "XM_011516498.1:c.108G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514800.1:p.Ser36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163,
          "referenceAllele": "G",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "XM_011516499.1:c.108G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514801.1:p.Ser36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163,
          "referenceAllele": "G",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "XM_011516500.1:c.108G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514802.1:p.Ser36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 129,
          "referenceAllele": "G",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "XM_011516501.1:c.-44G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514803.1:n.-44G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163,
          "referenceAllele": "G",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "XR_242262.3:n.163G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 163,
          "referenceAllele": "G",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "XR_927515.1:n.163G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS123920"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825122910",
      "coordinates": [
        {
          "allele": "A",
          "end": 178,
          "referenceAllele": "G",
          "start": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "NM_000265.6:c.108G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000256.4:p.Ser36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674768"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825122910",
      "coordinates": [
        {
          "allele": "A",
          "end": 129,
          "referenceAllele": "G",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007660",
      "geneNCBI_id": 653361,
      "geneSymbol": "NCF1",
      "hgvs": [
        "NM_000265.7:c.108G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000256.4:p.Ser36="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710817",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000289473.11:c.108G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000265.7:c.108G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000289473.4:p.Ser36="
          },
          "RefSeq": {
            "hgvs": "NP_000256.4:p.Ser36="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}