{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1143923094",
  "communityStandardTitle": [
    "NM_015102.5(NPHP4):c.3160C= (p.Arg1054=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/373369949",
        "rs": 373369949
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 5874542,
          "referenceAllele": "G",
          "start": 5874541
        }
      ],
      "hgvs": [
        "NC_000001.11:g.5874542G=",
        "CM000663.2:g.5874542G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 5934602,
          "referenceAllele": "G",
          "start": 5934601
        }
      ],
      "hgvs": [
        "NC_000001.10:g.5934602G=",
        "CM000663.1:g.5934602G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 5857189,
          "referenceAllele": "G",
          "start": 5857188
        }
      ],
      "hgvs": [
        "NC_000001.9:g.5857189G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 122930,
          "referenceAllele": "C",
          "start": 122929
        }
      ],
      "hgvs": [
        "NG_011724.2:g.122930C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001929"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3380,
          "referenceAllele": "C",
          "start": 3379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000378156.9:c.3160C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367398.4:p.Arg1054="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378156.9:c.3160C="
          },
          "RefSeq": {
            "hgvs": "NM_015102.5:c.3160C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367398.4:p.Arg1054="
          },
          "RefSeq": {
            "hgvs": "NP_055917.1:p.Arg1054="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3426,
          "referenceAllele": "C",
          "start": 3425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000378156.8:c.3160C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367398.4:p.Arg1054="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271910"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3092,
          "referenceAllele": "C",
          "start": 3091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000378169.7:c.*2061C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367411.3:n.*2061C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271918"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2892,
          "referenceAllele": "C",
          "start": 2891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000478423.6:n.2892C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3975,
          "referenceAllele": "C",
          "start": 3974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000489180.6:c.*971C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423747.1:n.*971C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327298"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3118,
          "referenceAllele": "C",
          "start": 3117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_001291593.1:c.1621C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278522.1:p.Arg541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024270"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2941,
          "referenceAllele": "C",
          "start": 2940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_001291594.1:c.1624C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278523.1:p.Arg542="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064072061",
      "coordinates": [
        {
          "allele": "C",
          "end": 3428,
          "referenceAllele": "C",
          "start": 3427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_015102.4:c.3160C="
      ],
      "proteinEffect": {
        "hgvs": "NP_055917.1:p.Arg1054="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3975,
          "referenceAllele": "C",
          "start": 3974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NR_111987.1:n.3975C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055173"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3447,
          "referenceAllele": "C",
          "start": 3446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_006710563.2:c.3160C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006710626.1:p.Arg1054="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3657,
          "referenceAllele": "C",
          "start": 3656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_006710565.2:c.3160C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006710628.1:p.Arg1054="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068686"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3195,
          "referenceAllele": "C",
          "start": 3194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541213.1:c.3157C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539515.1:p.Arg1053="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3156,
          "referenceAllele": "C",
          "start": 3155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541214.1:c.3118C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539516.1:p.Arg1040="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3087,
          "referenceAllele": "C",
          "start": 3086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541215.1:c.3049C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539517.1:p.Arg1017="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3895,
          "referenceAllele": "C",
          "start": 3894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541216.1:c.3160C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539518.1:p.Arg1054="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108159"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3759,
          "referenceAllele": "C",
          "start": 3758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541217.1:c.3160C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539519.1:p.Arg1054="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108160"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3425,
          "referenceAllele": "C",
          "start": 3424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541218.1:c.3160C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539520.1:p.Arg1054="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108161"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3600,
          "referenceAllele": "C",
          "start": 3599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541219.1:c.3106C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539521.1:p.Arg1036="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108162"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3198,
          "referenceAllele": "C",
          "start": 3197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541220.1:c.3160C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539522.1:p.Arg1054="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108163"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3082,
          "endIntronDirection": "+",
          "endIntronOffset": 332,
          "referenceAllele": "C",
          "start": 3082,
          "startIntronDirection": "+",
          "startIntronOffset": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XR_946604.1:n.3082+332C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140188"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3274,
          "referenceAllele": "C",
          "start": 3273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_006710563.3:c.3160C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006710626.1:p.Arg1054="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537815"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3902,
          "referenceAllele": "C",
          "start": 3901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541216.2:c.3160C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539518.1:p.Arg1054="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3766,
          "referenceAllele": "C",
          "start": 3765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541217.2:c.3160C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539519.1:p.Arg1054="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3435,
          "referenceAllele": "C",
          "start": 3434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541218.2:c.3160C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539520.1:p.Arg1054="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554353"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3153,
          "referenceAllele": "C",
          "start": 3152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017000996.1:c.3115C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856485.1:p.Arg1039="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557257"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3697,
          "referenceAllele": "C",
          "start": 3696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017000997.1:c.3160C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856486.1:p.Arg1054="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557258"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3198,
          "referenceAllele": "C",
          "start": 3197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017000998.1:c.3160C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856487.1:p.Arg1054="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557259"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3193,
          "referenceAllele": "C",
          "start": 3192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017000999.1:c.2632C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856488.1:p.Arg878="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557260"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3021,
          "referenceAllele": "C",
          "start": 3020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017001000.2:c.2632C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856489.1:p.Arg878="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557261"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2465,
          "referenceAllele": "C",
          "start": 2464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017001001.1:c.2362C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856490.1:p.Arg788="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557262"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2256,
          "referenceAllele": "C",
          "start": 2255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017001003.1:c.1621C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856492.1:p.Arg541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557264"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3198,
          "referenceAllele": "C",
          "start": 3197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XR_001737114.1:n.3198C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3082,
          "endIntronDirection": "+",
          "endIntronOffset": 332,
          "referenceAllele": "C",
          "start": 3082,
          "startIntronDirection": "+",
          "startIntronOffset": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XR_001737115.1:n.3082+332C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064072061",
      "coordinates": [
        {
          "allele": "C",
          "end": 3380,
          "referenceAllele": "C",
          "start": 3379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_015102.5:c.3160C="
      ],
      "proteinEffect": {
        "hgvs": "NP_055917.1:p.Arg1054="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668638",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378156.9:c.3160C="
          },
          "RefSeq": {
            "hgvs": "NM_015102.5:c.3160C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367398.4:p.Arg1054="
          },
          "RefSeq": {
            "hgvs": "NP_055917.1:p.Arg1054="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3070,
          "referenceAllele": "C",
          "start": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_001291593.2:c.1621C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278522.1:p.Arg541="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2893,
          "referenceAllele": "C",
          "start": 2892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_001291594.2:c.1624C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001278523.1:p.Arg542="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682840"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3927,
          "referenceAllele": "C",
          "start": 3926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NR_111987.2:n.3927C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703187"
    }
  ],
  "type": "nucleotide"
}