{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7047817",
  "communityStandardTitle": [
    "NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=441572[alleleid]",
        "alleleId": 441572,
        "preferredName": "NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/447159",
        "RCV": [
          "RCV000517036",
          "RCV001313192",
          "RCV001109408",
          "RCV002248749"
        ],
        "variationId": 447159
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/13-110838791-G-C",
        "id": "13-110838791-G-C",
        "variant": "13:110838791 G / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.110838791G>C?assembly=hg19",
        "id": "chr13:g.110838791G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.110186444G>C?assembly=hg38",
        "id": "chr13:g.110186444G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146091004",
        "rs": 146091004
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-110838791-G-C?dataset=gnomad_r2_1",
        "id": "13-110838791-G-C",
        "variant": "13:110838791 G / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-110186444-G-C?dataset=gnomad_r3",
        "id": "13-110186444-G-C",
        "variant": "13:110186444 G / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/13-110186444-G-C?dataset=gnomad_r4",
        "id": "13-110186444-G-C",
        "variant": "13:110186444 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 110186444,
          "referenceAllele": "G",
          "start": 110186443
        }
      ],
      "hgvs": [
        "NC_000013.11:g.110186444G>C",
        "CM000675.2:g.110186444G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 110838791,
          "referenceAllele": "G",
          "start": 110838790
        }
      ],
      "hgvs": [
        "NC_000013.10:g.110838791G>C",
        "CM000675.1:g.110838791G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 109636792,
          "referenceAllele": "G",
          "start": 109636791
        }
      ],
      "hgvs": [
        "NC_000013.9:g.109636792G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 125706,
          "referenceAllele": "C",
          "start": 125705
        }
      ],
      "hgvs": [
        "NG_011544.2:g.125706C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001806"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1968,
          "referenceAllele": "C",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "ENST00000375820.10:c.1838C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364979.4:p.Pro613Arg",
        "hgvsWellDefined": "ENSP00000364979.4:p.Pro613Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751671",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375820.10:c.1838C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001845.6:c.1838C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364979.4:p.Pro613Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001836.3:p.Pro613Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1968,
          "referenceAllele": "C",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "ENST00000649738.1:n.1968C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770713"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1960,
          "referenceAllele": "C",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "ENST00000375820.8:c.1838C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364979.4:p.Pro613Arg",
        "hgvsWellDefined": "ENSP00000364979.4:p.Pro613Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270886"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658666906",
      "coordinates": [
        {
          "allele": "G",
          "end": 1968,
          "referenceAllele": "C",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "NM_001845.5:c.1838C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001836.3:p.Pro613Arg",
        "hgvsWellDefined": "NP_001836.3:p.Pro613Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027173"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9900,
          "referenceAllele": "C",
          "start": 9899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "XM_011521048.1:c.1646C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519350.1:p.Pro549Arg",
        "hgvsWellDefined": "XP_011519350.1:p.Pro549Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088212"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9900,
          "referenceAllele": "C",
          "start": 9899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "XM_011521048.2:c.1646C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519350.1:p.Pro549Arg",
        "hgvsWellDefined": "XP_011519350.1:p.Pro549Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545967"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658666906",
      "coordinates": [
        {
          "allele": "G",
          "end": 1968,
          "referenceAllele": "C",
          "start": 1967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002202",
      "geneNCBI_id": 1282,
      "geneSymbol": "COL4A1",
      "hgvs": [
        "NM_001845.6:c.1838C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001836.3:p.Pro613Arg",
        "hgvsWellDefined": "NP_001836.3:p.Pro613Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665207",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375820.10:c.1838C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001845.6:c.1838C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364979.4:p.Pro613Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001836.3:p.Pro613Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}