{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349010630",
  "communityStandardTitle": [
    "NM_022168.4(IFIH1):c.601G>A (p.Asp201Asn)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2150460[alleleid]",
        "alleleId": 2150460,
        "preferredName": "NM_022168.4(IFIH1):c.601G>A (p.Asp201Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2099139",
        "RCV": [
          "RCV003021564"
        ],
        "variationId": 2099139
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.163167296C>T?assembly=hg19",
        "id": "chr2:g.163167296C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.162310786C>T?assembly=hg38",
        "id": "chr2:g.162310786C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/767542632",
        "rs": 767542632
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-163167296-C-T?dataset=gnomad_r2_1",
        "id": "2-163167296-C-T",
        "variant": "2:163167296 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-162310786-C-T?dataset=gnomad_r3",
        "id": "2-162310786-C-T",
        "variant": "2:162310786 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-162310786-C-T?dataset=gnomad_r4",
        "id": "2-162310786-C-T",
        "variant": "2:162310786 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 162310786,
          "referenceAllele": "C",
          "start": 162310785
        }
      ],
      "hgvs": [
        "NC_000002.12:g.162310786C>T",
        "CM000664.2:g.162310786C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 163167296,
          "referenceAllele": "C",
          "start": 163167295
        }
      ],
      "hgvs": [
        "NC_000002.11:g.163167296C>T",
        "CM000664.1:g.163167296C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 162875542,
          "referenceAllele": "C",
          "start": 162875541
        }
      ],
      "hgvs": [
        "NC_000002.10:g.162875542C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 12744,
          "referenceAllele": "G",
          "start": 12743
        }
      ],
      "hgvs": [
        "NG_011495.1:g.12744G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001763"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1109,
          "referenceAllele": "G",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "ENST00000697291.1:c.*198G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513228.1:n.*198G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908668"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 769,
          "referenceAllele": "G",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "ENST00000648433.1:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496816.1:p.Asp201Asn",
        "hgvsWellDefined": "ENSP00000496816.1:p.Asp201Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769978"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 211,
          "referenceAllele": "G",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "ENST00000649554.1:n.211G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770605"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 978,
          "referenceAllele": "G",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "ENST00000649979.2:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497271.1:p.Asp201Asn",
        "hgvsWellDefined": "ENSP00000497271.1:p.Asp201Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649979.2:c.601G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022168.4:c.601G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497271.1:p.Asp201Asn"
          },
          "RefSeq": {
            "hgvs": "NP_071451.2:p.Asp201Asn"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 522,
          "referenceAllele": "G",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "ENST00000679938.1:c.436G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505518.1:p.Asp146Asn",
        "hgvsWellDefined": "ENSP00000505518.1:p.Asp146Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "ENST00000263642.2:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263642.2:p.Asp201Asn",
        "hgvsWellDefined": "ENSP00000263642.2:p.Asp201Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251309"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 978,
          "referenceAllele": "G",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "ENST00000421365.2:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408450.2:p.Asp201Asn",
        "hgvsWellDefined": "ENSP00000408450.2:p.Asp201Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS286763"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580451373",
      "coordinates": [
        {
          "allele": "A",
          "end": 1002,
          "referenceAllele": "G",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "NM_022168.3:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071451.2:p.Asp201Asn",
        "hgvsWellDefined": "NP_071451.2:p.Asp201Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1058,
          "referenceAllele": "G",
          "start": 1057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "XM_011511629.1:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509931.1:p.Asp201Asn",
        "hgvsWellDefined": "XP_011509931.1:p.Asp201Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580451373",
      "coordinates": [
        {
          "allele": "A",
          "end": 978,
          "referenceAllele": "G",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018873",
      "geneNCBI_id": 64135,
      "geneSymbol": "IFIH1",
      "hgvs": [
        "NM_022168.4:c.601G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_071451.2:p.Asp201Asn",
        "hgvsWellDefined": "NP_071451.2:p.Asp201Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526080",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649979.2:c.601G>A"
          },
          "RefSeq": {
            "hgvs": "NM_022168.4:c.601G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497271.1:p.Asp201Asn"
          },
          "RefSeq": {
            "hgvs": "NP_071451.2:p.Asp201Asn"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}