{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2147389",
  "communityStandardTitle": [
    "NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=288457[alleleid]",
        "alleleId": 288457,
        "preferredName": "NM_000091.5(COL4A3):c.3939G>A (p.Gly1313=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/334777",
        "RCV": [
          "RCV000328358",
          "RCV000825740",
          "RCV000925691"
        ],
        "variationId": 334777
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-228167810-G-A",
        "id": "2-228167810-G-A",
        "variant": "2:228167810 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.228167810G>A?assembly=hg19",
        "id": "chr2:g.228167810G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.227303094G>A?assembly=hg38",
        "id": "chr2:g.227303094G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/141552752",
        "rs": 141552752
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-228167810-G-A?dataset=gnomad_r2_1",
        "id": "2-228167810-G-A",
        "variant": "2:228167810 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227303094-G-A?dataset=gnomad_r3",
        "id": "2-227303094-G-A",
        "variant": "2:227303094 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227303094-G-A?dataset=gnomad_r4",
        "id": "2-227303094-G-A",
        "variant": "2:227303094 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227303094,
          "referenceAllele": "G",
          "start": 227303093
        }
      ],
      "hgvs": [
        "NC_000002.12:g.227303094G>A",
        "CM000664.2:g.227303094G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 228167810,
          "referenceAllele": "G",
          "start": 228167809
        }
      ],
      "hgvs": [
        "NC_000002.11:g.228167810G>A",
        "CM000664.1:g.228167810G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 227876054,
          "referenceAllele": "G",
          "start": 227876053
        }
      ],
      "hgvs": [
        "NC_000002.10:g.227876054G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 143530,
          "referenceAllele": "G",
          "start": 143529
        }
      ],
      "hgvs": [
        "NG_011591.1:g.143530G>A",
        "LRG_230:g.143530G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001839"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 357,
          "referenceAllele": "G",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000471862.2:n.357G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4042,
          "referenceAllele": "G",
          "start": 4041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000396578.8:c.3939G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379823.3:p.Gly1313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753536",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396578.8:c.3939G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000091.5:c.3939G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379823.3:p.Gly1313="
          },
          "RefSeq": {
            "hgvs": "NP_000082.2:p.Gly1313="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4101,
          "referenceAllele": "G",
          "start": 4100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000396578.7:c.3939G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379823.3:p.Gly1313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 602,
          "referenceAllele": "G",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000468753.5:n.602G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS311596"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 357,
          "referenceAllele": "G",
          "start": 356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "ENST00000471862.1:n.357G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313966"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825059041",
      "coordinates": [
        {
          "allele": "A",
          "end": 4101,
          "referenceAllele": "G",
          "start": 4100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "NM_000091.4:c.3939G>A",
        "LRG_230t1:c.3939G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000082.2:p.Gly1313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 243,
          "endIntronDirection": "+",
          "endIntronOffset": 2366,
          "referenceAllele": "C",
          "start": 243,
          "startIntronDirection": "+",
          "startIntronOffset": 2365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN041067",
      "geneNCBI_id": 654841,
      "geneSymbol": "MFF-DT",
      "hgvs": [
        "NR_102371.1:n.243+2366C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052797"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4077,
          "referenceAllele": "G",
          "start": 4076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246276.2:c.3939G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246333.1:p.Gly1313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057548"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3972,
          "referenceAllele": "G",
          "start": 3971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246277.2:c.3834G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246334.1:p.Gly1278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4077,
          "referenceAllele": "G",
          "start": 4076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510555.1:c.3939G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508857.1:p.Gly1313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077818"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3133,
          "referenceAllele": "G",
          "start": 3132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510556.1:c.2700G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508858.1:p.Gly900="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS077819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4077,
          "referenceAllele": "G",
          "start": 4076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_241280.2:n.4077G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3972,
          "referenceAllele": "G",
          "start": 3971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_005246277.3:c.3834G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246334.1:p.Gly1278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3133,
          "referenceAllele": "G",
          "start": 3132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XM_011510556.2:c.2700G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011508858.1:p.Gly900="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4077,
          "referenceAllele": "G",
          "start": 4076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "XR_241280.3:n.4077G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605830"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825059041",
      "coordinates": [
        {
          "allele": "A",
          "end": 4042,
          "referenceAllele": "G",
          "start": 4041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002204",
      "geneNCBI_id": 1285,
      "geneSymbol": "COL4A3",
      "hgvs": [
        "NM_000091.5:c.3939G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000082.2:p.Gly1313="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674698",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000396578.8:c.3939G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000091.5:c.3939G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379823.3:p.Gly1313="
          },
          "RefSeq": {
            "hgvs": "NP_000082.2:p.Gly1313="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}