{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA067719",
  "communityStandardTitle": [
    "NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1166237",
        "active": true,
        "id": "COSM1166237"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=224550[alleleid]",
        "alleleId": 224550,
        "preferredName": "NM_004646.4(NPHS1):c.2398C>T (p.Arg800Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/222761",
        "RCV": [
          "RCV000208010",
          "RCV000675181",
          "RCV000955035"
        ],
        "variationId": 222761
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-36333389-G-A",
        "id": "19-36333389-G-A",
        "variant": "19:36333389 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.36333389G>A?assembly=hg19",
        "id": "chr19:g.36333389G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.35842487G>A?assembly=hg38",
        "id": "chr19:g.35842487G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/114896482",
        "rs": 114896482
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-36333389-G-A?dataset=gnomad_r2_1",
        "id": "19-36333389-G-A",
        "variant": "19:36333389 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-35842487-G-A?dataset=gnomad_r3",
        "id": "19-35842487-G-A",
        "variant": "19:35842487 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-35842487-G-A?dataset=gnomad_r4",
        "id": "19-35842487-G-A",
        "variant": "19:35842487 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 35842487,
          "referenceAllele": "G",
          "start": 35842486
        }
      ],
      "hgvs": [
        "NC_000019.10:g.35842487G>A",
        "CM000681.2:g.35842487G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 36333389,
          "referenceAllele": "G",
          "start": 36333388
        }
      ],
      "hgvs": [
        "NC_000019.9:g.36333389G>A",
        "CM000681.1:g.36333389G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 41025229,
          "referenceAllele": "G",
          "start": 41025228
        }
      ],
      "hgvs": [
        "NC_000019.8:g.41025229G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 31801,
          "referenceAllele": "C",
          "start": 31800
        }
      ],
      "hgvs": [
        "NG_013356.2:g.31801C>T",
        "LRG_693:g.31801C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002808"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3065,
          "referenceAllele": "C",
          "start": 3064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000378910.10:c.2398C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368190.4:p.Arg800Cys",
        "hgvsWellDefined": "ENSP00000368190.4:p.Arg800Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752149",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378910.10:c.2398C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004646.4:c.2398C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368190.4:p.Arg800Cys"
          },
          "RefSeq": {
            "hgvs": "NP_004637.1:p.Arg800Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2399,
          "referenceAllele": "C",
          "start": 2398
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000353632.6:c.2398C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343634.5:p.Arg800Cys",
        "hgvsWellDefined": "ENSP00000343634.5:p.Arg800Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2398,
          "referenceAllele": "C",
          "start": 2397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "ENST00000378910.9:c.2398C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000368190.4:p.Arg800Cys",
        "hgvsWellDefined": "ENSP00000368190.4:p.Arg800Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272252"
    },
    {
      "@id": "http://reg.genome.network/allele/PA067731",
      "coordinates": [
        {
          "allele": "T",
          "end": 2554,
          "referenceAllele": "C",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "NM_004646.3:c.2398C>T",
        "LRG_693t1:c.2398C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004637.1:p.Arg800Cys",
        "hgvsWellDefined": "NP_004637.1:p.Arg800Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029801"
    },
    {
      "@id": "http://reg.genome.network/allele/PA067731",
      "coordinates": [
        {
          "allele": "T",
          "end": 3065,
          "referenceAllele": "C",
          "start": 3064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007908",
      "geneNCBI_id": 4868,
      "geneSymbol": "NPHS1",
      "hgvs": [
        "NM_004646.4:c.2398C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004637.1:p.Arg800Cys",
        "hgvsWellDefined": "NP_004637.1:p.Arg800Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727531",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378910.10:c.2398C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004646.4:c.2398C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000368190.4:p.Arg800Cys"
          },
          "RefSeq": {
            "hgvs": "NP_004637.1:p.Arg800Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}