{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2147561",
  "communityStandardTitle": [
    "NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=285094[alleleid]",
        "alleleId": 285094,
        "preferredName": "NM_000091.5(COL4A3):c.4482G>A (p.Leu1494=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/334784",
        "RCV": [
          "RCV000399705",
          "RCV000825742",
          "RCV000942296",
          "RCV001276578",
          "RCV001509570"
        ],
        "variationId": 334784
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-228173634-G-A",
        "id": "2-228173634-G-A",
        "variant": "2:228173634 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.228173634G>A?assembly=hg19",
        "id": "chr2:g.228173634G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.227308918G>A?assembly=hg38",
        "id": "chr2:g.227308918G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/181952966",
        "rs": 181952966
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-228173634-G-A?dataset=gnomad_r2_1",
        "id": "2-228173634-G-A",
        "variant": "2:228173634 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227308918-G-A?dataset=gnomad_r3",
        "id": "2-227308918-G-A",
        "variant": "2:227308918 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227308918-G-A?dataset=gnomad_r4",
        "id": "2-227308918-G-A",
        "variant": "2:227308918 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227308918,
          "referenceAllele": "G",
          "start": 227308917
        }
      ],
      "hgvs": [
        "NC_000002.12:g.227308918G>A",
        "CM000664.2:g.227308918G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 228173634,
          "referenceAllele": "G",
          "start": 228173633
        }
      ],
      "hgvs": [
        "NC_000002.11:g.228173634G>A",
        "CM000664.1:g.228173634G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227881878,
          "referenceAllele": "G",
          "start": 227881877
        }
      ],
      "hgvs": [
        "NC_000002.10:g.227881878G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 149354,
          "referenceAllele": "G",
          "start": 149353
        }
      ],
      "hgvs": [
        "NG_011591.1:g.149354G>A",
        "LRG_230:g.149354G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001839"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1740,
          "referenceAllele": "G",
          "start": 1739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000471862.2:n.1740G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1922,
          "referenceAllele": "G",
          "start": 1921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000684413.1:n.1922G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4585,
          "referenceAllele": "G",
          "start": 4584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000396578.8:c.4482G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379823.3:p.Leu1494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753536",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396578.8:c.4482G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000091.5:c.4482G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379823.3:p.Leu1494="
          },
          "RefSeq": {
            "hgvs": "NP_000082.2:p.Leu1494="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 433,
          "endIntronDirection": "-",
          "endIntronOffset": 285,
          "referenceAllele": "G",
          "start": 433,
          "startIntronDirection": "-",
          "startIntronOffset": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000469504.2:c.434-286G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493493.1:n.434-286G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756974"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 168,
          "referenceAllele": "G",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000643388.1:c.168G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495177.1:p.Leu56="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767256"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4644,
          "referenceAllele": "G",
          "start": 4643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000396578.7:c.4482G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379823.3:p.Leu1494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 148,
          "endIntronDirection": "-",
          "endIntronOffset": 285,
          "referenceAllele": "G",
          "start": 148,
          "startIntronDirection": "-",
          "startIntronOffset": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000469504.1:n.149-286G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312173"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825059161",
      "coordinates": [
        {
          "allele": "A",
          "end": 4644,
          "referenceAllele": "G",
          "start": 4643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "NM_000091.4:c.4482G>A",
        "LRG_230t1:c.4482G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000082.2:p.Leu1494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 47,
          "endIntronDirection": "-",
          "endIntronOffset": 3262,
          "referenceAllele": "C",
          "start": 47,
          "startIntronDirection": "-",
          "startIntronOffset": 3263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN041067",
      "geneNCBI_id": 654841,
      "geneSymbol": "MFF-DT",
      "hgvs": [
        "NR_102371.1:n.48-3263C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052797"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4620,
          "referenceAllele": "G",
          "start": 4619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246276.2:c.4482G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246333.1:p.Leu1494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4515,
          "referenceAllele": "G",
          "start": 4514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246277.2:c.4377G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246334.1:p.Leu1459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4620,
          "referenceAllele": "G",
          "start": 4619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510555.1:c.4482G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508857.1:p.Leu1494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3676,
          "referenceAllele": "G",
          "start": 3675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510556.1:c.3243G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508858.1:p.Leu1081="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4600,
          "endIntronDirection": "-",
          "endIntronOffset": 285,
          "referenceAllele": "G",
          "start": 4600,
          "startIntronDirection": "-",
          "startIntronOffset": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_241280.2:n.4601-286G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4515,
          "referenceAllele": "G",
          "start": 4514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246277.3:c.4377G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246334.1:p.Leu1459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3676,
          "referenceAllele": "G",
          "start": 3675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510556.2:c.3243G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508858.1:p.Leu1081="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4600,
          "endIntronDirection": "-",
          "endIntronOffset": 285,
          "referenceAllele": "G",
          "start": 4600,
          "startIntronDirection": "-",
          "startIntronOffset": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_241280.3:n.4601-286G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825059161",
      "coordinates": [
        {
          "allele": "A",
          "end": 4585,
          "referenceAllele": "G",
          "start": 4584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "NM_000091.5:c.4482G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000082.2:p.Leu1494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674698",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396578.8:c.4482G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000091.5:c.4482G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379823.3:p.Leu1494="
          },
          "RefSeq": {
            "hgvs": "NP_000082.2:p.Leu1494="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}