{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA115779",
  "communityStandardTitle": [
    "NM_020184.4(CNNM4):c.707G>A (p.Arg236Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17887[alleleid]",
        "alleleId": 17887,
        "preferredName": "NM_020184.4(CNNM4):c.707G>A (p.Arg236Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2848",
        "RCV": [
          "RCV000002982"
        ],
        "variationId": 2848
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.97427443G>A?assembly=hg19",
        "id": "chr2:g.97427443G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.96761706G>A?assembly=hg38",
        "id": "chr2:g.96761706G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/75267011",
        "rs": 75267011
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-96761706-G-A?dataset=gnomad_r4",
        "id": "2-96761706-G-A",
        "variant": "2:96761706 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 96761706,
          "referenceAllele": "G",
          "start": 96761705
        }
      ],
      "hgvs": [
        "NC_000002.12:g.96761706G>A",
        "CM000664.2:g.96761706G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 97427443,
          "referenceAllele": "G",
          "start": 97427442
        }
      ],
      "hgvs": [
        "NC_000002.11:g.97427443G>A",
        "CM000664.1:g.97427443G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 96791170,
          "referenceAllele": "G",
          "start": 96791169
        }
      ],
      "hgvs": [
        "NC_000002.10:g.96791170G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5805,
          "referenceAllele": "G",
          "start": 5804
        }
      ],
      "hgvs": [
        "NG_016608.1:g.5805G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003228"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 805,
          "referenceAllele": "G",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000105",
      "geneNCBI_id": 26504,
      "geneSymbol": "CNNM4",
      "hgvs": [
        "ENST00000377075.3:c.707G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366275.2:p.Arg236Gln",
        "hgvsWellDefined": "ENSP00000366275.2:p.Arg236Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377075.3:c.707G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020184.4:c.707G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366275.2:p.Arg236Gln"
          },
          "RefSeq": {
            "hgvs": "NP_064569.3:p.Arg236Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 805,
          "referenceAllele": "G",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000105",
      "geneNCBI_id": 26504,
      "geneSymbol": "CNNM4",
      "hgvs": [
        "ENST00000377075.2:c.707G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366275.2:p.Arg236Gln",
        "hgvsWellDefined": "ENSP00000366275.2:p.Arg236Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105015",
      "coordinates": [
        {
          "allele": "A",
          "end": 805,
          "referenceAllele": "G",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000105",
      "geneNCBI_id": 26504,
      "geneSymbol": "CNNM4",
      "hgvs": [
        "NM_020184.3:c.707G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_064569.3:p.Arg236Gln",
        "hgvsWellDefined": "NP_064569.3:p.Arg236Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 734,
          "referenceAllele": "G",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000105",
      "geneNCBI_id": 26504,
      "geneSymbol": "CNNM4",
      "hgvs": [
        "XM_005263914.2:c.707G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263971.1:p.Arg236Gln",
        "hgvsWellDefined": "XP_005263971.1:p.Arg236Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000105",
      "geneNCBI_id": 26504,
      "geneSymbol": "CNNM4",
      "hgvs": [
        "XM_005263915.2:c.707G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263972.1:p.Arg236Gln",
        "hgvsWellDefined": "XP_005263972.1:p.Arg236Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 735,
          "referenceAllele": "G",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000105",
      "geneNCBI_id": 26504,
      "geneSymbol": "CNNM4",
      "hgvs": [
        "XM_011510955.1:c.707G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509257.1:p.Arg236Gln",
        "hgvsWellDefined": "XP_011509257.1:p.Arg236Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078216"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000105",
      "geneNCBI_id": 26504,
      "geneSymbol": "CNNM4",
      "hgvs": [
        "XM_011510956.1:c.707G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509258.1:p.Arg236Gln",
        "hgvsWellDefined": "XP_011509258.1:p.Arg236Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078217"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 798,
          "referenceAllele": "G",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000105",
      "geneNCBI_id": 26504,
      "geneSymbol": "CNNM4",
      "hgvs": [
        "XM_005263914.4:c.707G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263971.1:p.Arg236Gln",
        "hgvsWellDefined": "XP_005263971.1:p.Arg236Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535771"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 798,
          "referenceAllele": "G",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000105",
      "geneNCBI_id": 26504,
      "geneSymbol": "CNNM4",
      "hgvs": [
        "XM_005263915.4:c.707G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005263972.1:p.Arg236Gln",
        "hgvsWellDefined": "XP_005263972.1:p.Arg236Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535772"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 798,
          "referenceAllele": "G",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000105",
      "geneNCBI_id": 26504,
      "geneSymbol": "CNNM4",
      "hgvs": [
        "XM_011510955.3:c.707G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509257.1:p.Arg236Gln",
        "hgvsWellDefined": "XP_011509257.1:p.Arg236Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541947"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 798,
          "referenceAllele": "G",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000105",
      "geneNCBI_id": 26504,
      "geneSymbol": "CNNM4",
      "hgvs": [
        "XM_011510956.3:c.707G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509258.1:p.Arg236Gln",
        "hgvsWellDefined": "XP_011509258.1:p.Arg236Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541948"
    },
    {
      "@id": "http://reg.genome.network/allele/PA105015",
      "coordinates": [
        {
          "allele": "A",
          "end": 805,
          "referenceAllele": "G",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000105",
      "geneNCBI_id": 26504,
      "geneSymbol": "CNNM4",
      "hgvs": [
        "NM_020184.4:c.707G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_064569.3:p.Arg236Gln",
        "hgvsWellDefined": "NP_064569.3:p.Arg236Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669917",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000377075.3:c.707G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020184.4:c.707G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000366275.2:p.Arg236Gln"
          },
          "RefSeq": {
            "hgvs": "NP_064569.3:p.Arg236Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}