{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA337751",
  "communityStandardTitle": [
    "NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4645909"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212105[alleleid]",
        "alleleId": 212105,
        "preferredName": "NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/215887",
        "RCV": [
          "RCV000198249",
          "RCV000407300",
          "RCV000596396",
          "RCV001093793",
          "RCV001699062"
        ],
        "variationId": 215887
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-5923976-G-A",
        "id": "1-5923976-G-A",
        "variant": "1:5923976 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.5923976G>A?assembly=hg19",
        "id": "chr1:g.5923976G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.5863916G>A?assembly=hg38",
        "id": "chr1:g.5863916G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/374146357",
        "rs": 374146357
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-5923976-G-A?dataset=gnomad_r2_1",
        "id": "1-5923976-G-A",
        "variant": "1:5923976 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-5863916-G-A?dataset=gnomad_r3",
        "id": "1-5863916-G-A",
        "variant": "1:5863916 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-5863916-G-A?dataset=gnomad_r4",
        "id": "1-5863916-G-A",
        "variant": "1:5863916 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 5863916,
          "referenceAllele": "G",
          "start": 5863915
        }
      ],
      "hgvs": [
        "NC_000001.11:g.5863916G>A",
        "CM000663.2:g.5863916G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 5923976,
          "referenceAllele": "G",
          "start": 5923975
        }
      ],
      "hgvs": [
        "NC_000001.10:g.5923976G>A",
        "CM000663.1:g.5923976G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 5846563,
          "referenceAllele": "G",
          "start": 5846562
        }
      ],
      "hgvs": [
        "NC_000001.9:g.5846563G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 133556,
          "referenceAllele": "C",
          "start": 133555
        }
      ],
      "hgvs": [
        "NG_011724.2:g.133556C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001929"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4334,
          "referenceAllele": "C",
          "start": 4333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000378156.9:c.4114C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367398.4:p.Leu1372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752036",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378156.9:c.4114C>T"
          },
          "RefSeq": {
            "hgvs": "NM_015102.5:c.4114C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367398.4:p.Leu1372="
          },
          "RefSeq": {
            "hgvs": "NP_055917.1:p.Leu1372="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4380,
          "referenceAllele": "C",
          "start": 4379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000378156.8:c.4114C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367398.4:p.Leu1372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3265,
          "referenceAllele": "C",
          "start": 3264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000378161.5:n.3265C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS271912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4046,
          "referenceAllele": "C",
          "start": 4045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000378169.7:c.*3015C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367411.3:n.*3015C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271918"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2862,
          "referenceAllele": "C",
          "start": 2861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000460696.1:n.2862C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3846,
          "referenceAllele": "C",
          "start": 3845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000478423.6:n.3846C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319035"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4929,
          "referenceAllele": "C",
          "start": 4928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "ENST00000489180.6:c.*1925C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423747.1:n.*1925C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327298"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826800854",
      "coordinates": [
        {
          "allele": "T",
          "end": 4072,
          "referenceAllele": "C",
          "start": 4071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_001291593.1:c.2575C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278522.1:p.Leu859="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024270"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826801398",
      "coordinates": [
        {
          "allele": "T",
          "end": 3895,
          "referenceAllele": "C",
          "start": 3894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_001291594.1:c.2578C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278523.1:p.Leu860="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829777868",
      "coordinates": [
        {
          "allele": "T",
          "end": 4382,
          "referenceAllele": "C",
          "start": 4381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_015102.4:c.4114C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055917.1:p.Leu1372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4929,
          "referenceAllele": "C",
          "start": 4928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NR_111987.1:n.4929C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055173"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4401,
          "referenceAllele": "C",
          "start": 4400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_006710563.2:c.4114C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710626.1:p.Leu1372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4611,
          "referenceAllele": "C",
          "start": 4610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_006710565.2:c.4114C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710628.1:p.Leu1372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4149,
          "referenceAllele": "C",
          "start": 4148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541213.1:c.4111C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539515.1:p.Leu1371="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4110,
          "referenceAllele": "C",
          "start": 4109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541214.1:c.4072C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539516.1:p.Leu1358="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4041,
          "referenceAllele": "C",
          "start": 4040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541215.1:c.4003C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539517.1:p.Leu1335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4849,
          "referenceAllele": "C",
          "start": 4848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541216.1:c.4114C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539518.1:p.Leu1372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4713,
          "referenceAllele": "C",
          "start": 4712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541217.1:c.4114C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539519.1:p.Leu1372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4379,
          "referenceAllele": "C",
          "start": 4378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541218.1:c.4114C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539520.1:p.Leu1372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4554,
          "referenceAllele": "C",
          "start": 4553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541219.1:c.4060C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539521.1:p.Leu1354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4228,
          "referenceAllele": "C",
          "start": 4227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_006710563.3:c.4114C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710626.1:p.Leu1372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537815"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4856,
          "referenceAllele": "C",
          "start": 4855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541216.2:c.4114C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539518.1:p.Leu1372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4720,
          "referenceAllele": "C",
          "start": 4719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541217.2:c.4114C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539519.1:p.Leu1372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4389,
          "referenceAllele": "C",
          "start": 4388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_011541218.2:c.4114C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539520.1:p.Leu1372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554353"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4107,
          "referenceAllele": "C",
          "start": 4106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017000996.1:c.4069C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856485.1:p.Leu1357="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557257"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4651,
          "referenceAllele": "C",
          "start": 4650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017000997.1:c.4114C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856486.1:p.Leu1372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4147,
          "referenceAllele": "C",
          "start": 4146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017000999.1:c.3586C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856488.1:p.Leu1196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3975,
          "referenceAllele": "C",
          "start": 3974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017001000.2:c.3586C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856489.1:p.Leu1196="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3419,
          "referenceAllele": "C",
          "start": 3418
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017001001.1:c.3316C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856490.1:p.Leu1106="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3210,
          "referenceAllele": "C",
          "start": 3209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XM_017001003.1:c.2575C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856492.1:p.Leu859="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3980,
          "referenceAllele": "C",
          "start": 3979
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XR_001737114.1:n.3980C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3965,
          "referenceAllele": "C",
          "start": 3964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "XR_001737115.1:n.3965C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587933"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829777868",
      "coordinates": [
        {
          "allele": "T",
          "end": 4334,
          "referenceAllele": "C",
          "start": 4333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_015102.5:c.4114C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055917.1:p.Leu1372="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668638",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378156.9:c.4114C>T"
          },
          "RefSeq": {
            "hgvs": "NM_015102.5:c.4114C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367398.4:p.Leu1372="
          },
          "RefSeq": {
            "hgvs": "NP_055917.1:p.Leu1372="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826800854",
      "coordinates": [
        {
          "allele": "T",
          "end": 4024,
          "referenceAllele": "C",
          "start": 4023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_001291593.2:c.2575C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278522.1:p.Leu859="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682839"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826801398",
      "coordinates": [
        {
          "allele": "T",
          "end": 3847,
          "referenceAllele": "C",
          "start": 3846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NM_001291594.2:c.2578C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278523.1:p.Leu860="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4881,
          "referenceAllele": "C",
          "start": 4880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019104",
      "geneNCBI_id": 261734,
      "geneSymbol": "NPHP4",
      "hgvs": [
        "NR_111987.2:n.4881C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703187"
    }
  ],
  "type": "nucleotide"
}