{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1332861482",
  "communityStandardTitle": [
    "NM_000091.5(COL4A3):c.4441C= (p.Arg1481=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121912824",
        "rs": 121912824
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 227307898,
          "referenceAllele": "C",
          "start": 227307897
        }
      ],
      "hgvs": [
        "NC_000002.12:g.227307898C=",
        "CM000664.2:g.227307898C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 228172614,
          "referenceAllele": "C",
          "start": 228172613
        }
      ],
      "hgvs": [
        "NC_000002.11:g.228172614C=",
        "CM000664.1:g.228172614C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 227880858,
          "referenceAllele": "C",
          "start": 227880857
        }
      ],
      "hgvs": [
        "NC_000002.10:g.227880858C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 148334,
          "referenceAllele": "C",
          "start": 148333
        }
      ],
      "hgvs": [
        "NG_011591.1:g.148334C=",
        "LRG_230:g.148334C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001839"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1699,
          "referenceAllele": "C",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000471862.2:n.1699C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825223"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 902,
          "referenceAllele": "C",
          "start": 901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000684413.1:n.902C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829368"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4544,
          "referenceAllele": "C",
          "start": 4543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000396578.8:c.4441C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379823.3:p.Arg1481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753536",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396578.8:c.4441C="
          },
          "RefSeq": {
            "hgvs": "NM_000091.5:c.4441C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379823.3:p.Arg1481="
          },
          "RefSeq": {
            "hgvs": "NP_000082.2:p.Arg1481="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 412,
          "referenceAllele": "C",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000469504.2:c.412C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493493.1:p.Arg138="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756974"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 127,
          "referenceAllele": "C",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000643388.1:c.127C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495177.1:p.Arg43="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4603,
          "referenceAllele": "C",
          "start": 4602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000396578.7:c.4441C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379823.3:p.Arg1481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277337"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 127,
          "referenceAllele": "C",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000469504.1:n.127C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066526495",
      "coordinates": [
        {
          "allele": "C",
          "end": 4603,
          "referenceAllele": "C",
          "start": 4602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "NM_000091.4:c.4441C=",
        "LRG_230t1:c.4441C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000082.2:p.Arg1481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006155"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 47,
          "endIntronDirection": "-",
          "endIntronOffset": 2242,
          "referenceAllele": "G",
          "start": 47,
          "startIntronDirection": "-",
          "startIntronOffset": 2243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN041067",
      "geneNCBI_id": 654841,
      "geneSymbol": "MFF-DT",
      "hgvs": [
        "NR_102371.1:n.48-2243G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052797"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4579,
          "referenceAllele": "C",
          "start": 4578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246276.2:c.4441C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246333.1:p.Arg1481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057548"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4474,
          "referenceAllele": "C",
          "start": 4473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246277.2:c.4336C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246334.1:p.Arg1446="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057549"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4579,
          "referenceAllele": "C",
          "start": 4578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510555.1:c.4441C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011508857.1:p.Arg1481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077818"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3635,
          "referenceAllele": "C",
          "start": 3634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510556.1:c.3202C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011508858.1:p.Arg1068="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077819"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4579,
          "referenceAllele": "C",
          "start": 4578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_241280.2:n.4579C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4474,
          "referenceAllele": "C",
          "start": 4473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246277.3:c.4336C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005246334.1:p.Arg1446="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532574"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3635,
          "referenceAllele": "C",
          "start": 3634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510556.2:c.3202C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011508858.1:p.Arg1068="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541765"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4579,
          "referenceAllele": "C",
          "start": 4578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_241280.3:n.4579C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066526495",
      "coordinates": [
        {
          "allele": "C",
          "end": 4544,
          "referenceAllele": "C",
          "start": 4543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "NM_000091.5:c.4441C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000082.2:p.Arg1481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674698",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396578.8:c.4441C="
          },
          "RefSeq": {
            "hgvs": "NM_000091.5:c.4441C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379823.3:p.Arg1481="
          },
          "RefSeq": {
            "hgvs": "NP_000082.2:p.Arg1481="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}