{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7226018",
  "communityStandardTitle": [
    "NM_005956.4(MTHFD1):c.727+1G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=439706[alleleid]",
        "alleleId": 439706,
        "preferredName": "NM_005956.4(MTHFD1):c.727+1G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/446302",
        "RCV": [
          "RCV000515542",
          "RCV002525001"
        ],
        "variationId": 446302
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-64886644-G-A",
        "id": "14-64886644-G-A",
        "variant": "14:64886644 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.64886644G>A?assembly=hg19",
        "id": "chr14:g.64886644G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.64419926G>A?assembly=hg38",
        "id": "chr14:g.64419926G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/781065280",
        "rs": 781065280
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-64886644-G-A?dataset=gnomad_r2_1",
        "id": "14-64886644-G-A",
        "variant": "14:64886644 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-64419926-G-A?dataset=gnomad_r3",
        "id": "14-64419926-G-A",
        "variant": "14:64419926 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-64419926-G-A?dataset=gnomad_r4",
        "id": "14-64419926-G-A",
        "variant": "14:64419926 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 64419926,
          "referenceAllele": "G",
          "start": 64419925
        }
      ],
      "hgvs": [
        "NC_000014.9:g.64419926G>A",
        "CM000676.2:g.64419926G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 64886644,
          "referenceAllele": "G",
          "start": 64886643
        }
      ],
      "hgvs": [
        "NC_000014.8:g.64886644G>A",
        "CM000676.1:g.64886644G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 63956397,
          "referenceAllele": "G",
          "start": 63956396
        }
      ],
      "hgvs": [
        "NC_000014.7:g.63956397G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36886,
          "referenceAllele": "G",
          "start": 36885
        }
      ],
      "hgvs": [
        "NG_012450.1:g.36886G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 36886,
          "referenceAllele": "G",
          "start": 36885
        }
      ],
      "hgvs": [
        "NG_012450.2:g.36886G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616182"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 876,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 876,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000555858.2:n.876+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 890,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 890,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000557539.2:c.484+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000476468.2:n.484+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 876,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 876,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697166.1:n.876+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 876,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 876,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697167.1:c.727+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513155.1:n.727+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908572"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 876,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 876,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697168.1:c.727+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513156.1:n.727+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 876,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 876,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697169.1:c.727+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513157.1:n.727+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 876,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 876,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697170.1:n.876+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 876,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 876,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697171.1:c.727+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513158.1:n.727+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1116,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1116,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697173.1:c.484+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513159.1:n.484+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 540,
          "endIntronDirection": "+",
          "endIntronOffset": 4187,
          "referenceAllele": "G",
          "start": 540,
          "startIntronDirection": "+",
          "startIntronOffset": 4186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697174.1:c.478+4187G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513160.1:n.478+4187G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908579"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 922,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 922,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697175.1:c.484+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513161.1:n.484+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908580"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 729,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 729,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000697176.1:c.484+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513162.1:n.484+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1124,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000545908.6:c.727+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438588.2:n.727+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 972,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 972,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000554768.6:c.484+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477501.2:n.484+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 707,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 707,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000555709.7:c.*104+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450560.3:n.*104+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 793,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 793,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000557370.3:c.727+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000477199.2:n.727+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760203"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 802,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 802,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000650853.1:n.802+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 789,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 789,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000651537.1:c.727+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498511.1:n.727+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1421,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1421,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000652179.1:c.484+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498649.1:n.484+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 802,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 802,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000652337.1:c.727+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498336.1:n.727+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772150",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652337.1:c.727+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005956.4:c.727+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498336.1:n.727+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_005947.3:n.727+1G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 351,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 351,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000652503.1:n.351+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 805,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 805,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000216605.12:c.727+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216605.8:n.727+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1124,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1124,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000545908.5:c.895+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438588.1:n.895+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 160,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 160,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000554057.5:n.160+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS370336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 784,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 784,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "ENST00000555252.5:n.784+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS371294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1114,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1114,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "NM_005956.3:c.727+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005947.3:n.727+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 802,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 802,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "NM_001364837.1:c.727+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351766.1:n.727+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 802,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 802,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007432",
      "geneNCBI_id": 4522,
      "geneSymbol": "MTHFD1",
      "hgvs": [
        "NM_005956.4:c.727+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005947.3:n.727+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525355",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652337.1:c.727+1G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005956.4:c.727+1G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498336.1:n.727+1G>A"
          },
          "RefSeq": {
            "hgvs": "NP_005947.3:n.727+1G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}