{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7226565",
  "communityStandardTitle": [
    "NM_005956.4(MTHFD1):c.2282C>T (p.Thr761Met)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4985048"
      },
      {
        "active": false,
        "id": "COSM4985049"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1157313[alleleid]",
        "alleleId": 1157313,
        "preferredName": "NM_005956.4(MTHFD1):c.2282C>T (p.Thr761Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1166610",
        "RCV": [
          "RCV001515009"
        ],
        "variationId": 1166610
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-64916165-C-T",
        "id": "14-64916165-C-T",
        "variant": "14:64916165 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.64916165C>T?assembly=hg19",
        "id": "chr14:g.64916165C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.64449447C>T?assembly=hg38",
        "id": "chr14:g.64449447C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/10813",
        "rs": 10813
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-64916165-C-T?dataset=gnomad_r2_1",
        "id": "14-64916165-C-T",
        "variant": "14:64916165 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-64449447-C-T?dataset=gnomad_r3",
        "id": "14-64449447-C-T",
        "variant": "14:64449447 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-64449447-C-T?dataset=gnomad_r4",
        "id": "14-64449447-C-T",
        "variant": "14:64449447 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 64449447,
          "referenceAllele": "C",
          "start": 64449446
        }
      ],
      "hgvs": [
        "NC_000014.9:g.64449447C>T",
        "CM000676.2:g.64449447C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 64916165,
          "referenceAllele": "C",
          "start": 64916164
        }
      ],
      "hgvs": [
        "NC_000014.8:g.64916165C>T",
        "CM000676.1:g.64916165C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 63985918,
          "referenceAllele": "C",
          "start": 63985917
        }
      ],
      "hgvs": [
        "NC_000014.7:g.63985918C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 66407,
          "referenceAllele": "C",
          "start": 66406
        }
      ],
      "hgvs": [
        "NG_012450.1:g.66407C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 66407,
          "referenceAllele": "C",
          "start": 66406
        }
      ],
      "hgvs": [
        "NG_012450.2:g.66407C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616182"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2445,
          "referenceAllele": "C",
          "start": 2444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000557539.2:c.2039C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476468.2:p.Thr680Met",
        "hgvsWellDefined": "ENSP00000476468.2:p.Thr680Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905888"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2431,
          "referenceAllele": "C",
          "start": 2430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697166.1:n.2431C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2294,
          "referenceAllele": "C",
          "start": 2293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697167.1:c.*966C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513155.1:n.*966C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2431,
          "referenceAllele": "C",
          "start": 2430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697168.1:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513156.1:p.Thr761Met",
        "hgvsWellDefined": "ENSP00000513156.1:p.Thr761Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2319,
          "referenceAllele": "C",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697169.1:c.*283C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513157.1:n.*283C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3446,
          "referenceAllele": "C",
          "start": 3445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697170.1:n.3446C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2431,
          "referenceAllele": "C",
          "start": 2430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697171.1:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513158.1:p.Thr761Met",
        "hgvsWellDefined": "ENSP00000513158.1:p.Thr761Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2671,
          "referenceAllele": "C",
          "start": 2670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697173.1:c.2039C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513159.1:p.Thr680Met",
        "hgvsWellDefined": "ENSP00000513159.1:p.Thr680Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2095,
          "referenceAllele": "C",
          "start": 2094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697174.1:c.2033C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513160.1:p.Thr678Met",
        "hgvsWellDefined": "ENSP00000513160.1:p.Thr678Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908579"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2587,
          "referenceAllele": "C",
          "start": 2586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697175.1:c.*1078C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513161.1:n.*1078C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908580"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2281,
          "endIntronDirection": "+",
          "endIntronOffset": 1130,
          "referenceAllele": "C",
          "start": 2281,
          "startIntronDirection": "+",
          "startIntronOffset": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697176.1:c.2036+1130C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513162.1:n.2036+1130C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 737,
          "referenceAllele": "C",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697177.1:n.737C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908582"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2679,
          "referenceAllele": "C",
          "start": 2678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000545908.6:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438588.2:p.Thr761Met",
        "hgvsWellDefined": "ENSP00000438588.2:p.Thr761Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2527,
          "referenceAllele": "C",
          "start": 2526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000554768.6:c.2039C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477501.2:p.Thr680Met",
        "hgvsWellDefined": "ENSP00000477501.2:p.Thr680Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2348,
          "referenceAllele": "C",
          "start": 2347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000557370.3:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477199.2:p.Thr761Met",
        "hgvsWellDefined": "ENSP00000477199.2:p.Thr761Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760203"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3398,
          "referenceAllele": "C",
          "start": 3397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000650853.1:n.3398C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2344,
          "referenceAllele": "C",
          "start": 2343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000651537.1:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498511.1:p.Thr761Met",
        "hgvsWellDefined": "ENSP00000498511.1:p.Thr761Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 269,
          "referenceAllele": "C",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000651891.1:n.269C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771915"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2976,
          "referenceAllele": "C",
          "start": 2975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000652179.1:c.2039C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498649.1:p.Thr680Met",
        "hgvsWellDefined": "ENSP00000498649.1:p.Thr680Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772062"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2357,
          "referenceAllele": "C",
          "start": 2356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000652337.1:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498336.1:p.Thr761Met",
        "hgvsWellDefined": "ENSP00000498336.1:p.Thr761Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772150",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652337.1:c.2282C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005956.4:c.2282C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498336.1:p.Thr761Met"
          },
          "RefSeq": {
            "hgvs": "NP_005947.3:p.Thr761Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1515,
          "referenceAllele": "C",
          "start": 1514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000652509.1:c.1515C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2360,
          "referenceAllele": "C",
          "start": 2359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000216605.12:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216605.8:p.Thr761Met",
        "hgvsWellDefined": "ENSP00000216605.8:p.Thr761Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2679,
          "referenceAllele": "C",
          "start": 2678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000545908.5:c.2450C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438588.1:p.Thr817Met",
        "hgvsWellDefined": "ENSP00000438588.1:p.Thr817Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 604,
          "referenceAllele": "C",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000553405.1:n.604C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369834"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1099,
          "referenceAllele": "G",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013112",
      "geneNCBI_id": 7597,
      "geneSymbol": "ZBTB25",
      "hgvs": [
        "ENST00000555220.5:c.*104G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450718.1:n.*104G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371266"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 448,
          "referenceAllele": "G",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013112",
      "geneNCBI_id": 7597,
      "geneSymbol": "ZBTB25",
      "hgvs": [
        "ENST00000555424.1:c.448G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451046.1:n.448G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371424"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1099,
          "referenceAllele": "G",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013112",
      "geneNCBI_id": 7597,
      "geneSymbol": "ZBTB25",
      "hgvs": [
        "NM_001304508.1:c.*104G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291437.1:n.*104G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499272284",
      "coordinates": [
        {
          "allele": "T",
          "end": 2669,
          "referenceAllele": "C",
          "start": 2668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "NM_005956.3:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005947.3:p.Thr761Met",
        "hgvsWellDefined": "NP_005947.3:p.Thr761Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1955,
          "referenceAllele": "G",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013112",
      "geneNCBI_id": 7597,
      "geneSymbol": "ZBTB25",
      "hgvs": [
        "XM_006720250.2:c.*163G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720313.1:n.*163G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073573"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828156324",
      "coordinates": [
        {
          "allele": "T",
          "end": 2357,
          "referenceAllele": "C",
          "start": 2356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "NM_001364837.1:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351766.1:p.Thr761Met",
        "hgvsWellDefined": "NP_001351766.1:p.Thr761Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523958"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499272284",
      "coordinates": [
        {
          "allele": "T",
          "end": 2357,
          "referenceAllele": "C",
          "start": 2356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "NM_005956.4:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005947.3:p.Thr761Met",
        "hgvsWellDefined": "NP_005947.3:p.Thr761Met"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525355",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652337.1:c.2282C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005956.4:c.2282C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498336.1:p.Thr761Met"
          },
          "RefSeq": {
            "hgvs": "NP_005947.3:p.Thr761Met"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2048,
          "referenceAllele": "G",
          "start": 2047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013112",
      "geneNCBI_id": 7597,
      "geneSymbol": "ZBTB25",
      "hgvs": [
        "XM_006720250.4:c.*163G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720313.1:n.*163G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540054"
    }
  ],
  "type": "nucleotide"
}