{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA163189",
  "communityStandardTitle": [
    "NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=141324[alleleid]",
        "alleleId": 141324,
        "preferredName": "NM_022168.4(IFIH1):c.2159G>A (p.Arg720Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/137621",
        "RCV": [
          "RCV000125470",
          "RCV001849907"
        ],
        "variationId": 137621
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.163133342C>T?assembly=hg19",
        "id": "chr2:g.163133342C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.162276832C>T?assembly=hg38",
        "id": "chr2:g.162276832C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777445",
        "rs": 587777445
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-162276832-C-T?dataset=gnomad_r4",
        "id": "2-162276832-C-T",
        "variant": "2:162276832 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 162276832,
          "referenceAllele": "C",
          "start": 162276831
        }
      ],
      "hgvs": [
        "NC_000002.12:g.162276832C>T",
        "CM000664.2:g.162276832C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 163133342,
          "referenceAllele": "C",
          "start": 163133341
        }
      ],
      "hgvs": [
        "NC_000002.11:g.163133342C>T",
        "CM000664.1:g.163133342C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 162841588,
          "referenceAllele": "C",
          "start": 162841587
        }
      ],
      "hgvs": [
        "NC_000002.10:g.162841588C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 46698,
          "referenceAllele": "G",
          "start": 46697
        }
      ],
      "hgvs": [
        "NG_011495.1:g.46698G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001763"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2667,
          "referenceAllele": "G",
          "start": 2666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "ENST00000697291.1:c.*1756G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513228.1:n.*1756G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908668"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2210,
          "referenceAllele": "G",
          "start": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "ENST00000648433.1:c.2042G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496816.1:p.Arg681Gln",
        "hgvsWellDefined": "ENSP00000496816.1:p.Arg681Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1769,
          "referenceAllele": "G",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "ENST00000649554.1:n.1769G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770605"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2536,
          "referenceAllele": "G",
          "start": 2535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "ENST00000649979.2:c.2159G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497271.1:p.Arg720Gln",
        "hgvsWellDefined": "ENSP00000497271.1:p.Arg720Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649979.2:c.2159G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022168.4:c.2159G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497271.1:p.Arg720Gln"
          },
          "RefSeq": {
            "hgvs": "NP_071451.2:p.Arg720Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1933,
          "referenceAllele": "G",
          "start": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "ENST00000679938.1:c.1847G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505518.1:p.Arg616Gln",
        "hgvsWellDefined": "ENSP00000505518.1:p.Arg616Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2555,
          "referenceAllele": "G",
          "start": 2554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "ENST00000263642.2:c.2159G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263642.2:p.Arg720Gln",
        "hgvsWellDefined": "ENSP00000263642.2:p.Arg720Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251309"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110634",
      "coordinates": [
        {
          "allele": "A",
          "end": 2560,
          "referenceAllele": "G",
          "start": 2559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "NM_022168.3:c.2159G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071451.2:p.Arg720Gln",
        "hgvsWellDefined": "NP_071451.2:p.Arg720Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3167,
          "referenceAllele": "G",
          "start": 3166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "XM_011511628.1:c.1442G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509930.1:p.Arg481Gln",
        "hgvsWellDefined": "XP_011509930.1:p.Arg481Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110634",
      "coordinates": [
        {
          "allele": "A",
          "end": 2536,
          "referenceAllele": "G",
          "start": 2535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "NM_022168.4:c.2159G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071451.2:p.Arg720Gln",
        "hgvsWellDefined": "NP_071451.2:p.Arg720Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526080",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649979.2:c.2159G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022168.4:c.2159G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497271.1:p.Arg720Gln"
          },
          "RefSeq": {
            "hgvs": "NP_071451.2:p.Arg720Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}