{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA379959131", "communityStandardTitle": [ "NM_024426.6(WT1):c.1348C>A (p.His450Asn)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.32414218G>T?assembly=hg19", "id": "chr11:g.32414218G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.32392672G>T?assembly=hg38", "id": "chr11:g.32392672G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/28942089", "rs": 28942089 } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 32392672, "referenceAllele": "G", "start": 32392671 } ], "hgvs": [ "NC_000011.10:g.32392672G>T", "CM000673.2:g.32392672G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 32414218, "referenceAllele": "G", "start": 32414217 } ], "hgvs": [ "NC_000011.9:g.32414218G>T", "CM000673.1:g.32414218G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "T", "end": 32370794, "referenceAllele": "G", "start": 32370793 } ], "hgvs": [ "NC_000011.8:g.32370794G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "A", "end": 47870, "referenceAllele": "C", "start": 47869 } ], "hgvs": [ "NG_009272.1:g.47870C>A", "LRG_525:g.47870C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001534" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1501, "referenceAllele": "C", "start": 1500 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000332351.9:c.1297C>A" ], "proteinEffect": { "hgvs": "ENSP00000331327.5:p.His433Asn", "hgvsWellDefined": "ENSP00000331327.5:p.His433Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS747223" }, { "coordinates": [ { "allele": "A", "end": 1682, "referenceAllele": "C", "start": 1681 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000379077.9:c.*532C>A" ], "proteinEffect": { "hgvs": "ENSP00000368368.5:n.*532C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS752167" }, { "coordinates": [ { "allele": "A", "end": 971, "referenceAllele": "C", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000379079.8:c.697C>A" ], "proteinEffect": { "hgvs": "ENSP00000368370.2:p.His233Asn", "hgvsWellDefined": "ENSP00000368370.2:p.His233Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS752168" }, { "coordinates": [ { "allele": "A", "end": 1523, "referenceAllele": "C", "start": 1522 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000448076.9:c.1348C>A" ], "proteinEffect": { "hgvs": "ENSP00000413452.5:p.His450Asn", "hgvsWellDefined": "ENSP00000413452.5:p.His450Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS756156" }, { "coordinates": [ { "allele": "A", "end": 1527, "referenceAllele": "C", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000452863.10:c.1348C>A" ], "proteinEffect": { "hgvs": "ENSP00000415516.5:p.His450Asn", "hgvsWellDefined": "ENSP00000415516.5:p.His450Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS756399", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000452863.10:c.1348C>A" }, "RefSeq": { "hgvs": "NM_024426.6:c.1348C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000415516.5:p.His450Asn" }, "RefSeq": { "hgvs": "NP_077744.4:p.His450Asn" } } } }, { "coordinates": [ { "allele": "A", "end": 802, "referenceAllele": "C", "start": 801 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000526685.2:n.802C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS758978" }, { "coordinates": [ { "allele": "A", "end": 1297, "referenceAllele": "C", "start": 1296 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000639563.3:c.1297C>A" ], "proteinEffect": { "hgvs": "ENSP00000492269.3:p.His433Asn", "hgvsWellDefined": "ENSP00000492269.3:p.His433Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS765082" }, { "coordinates": [ { "allele": "A", "end": 491, "referenceAllele": "C", "start": 490 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000639907.2:n.491C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS765237" }, { "coordinates": [ { "allele": "A", "end": 869, "referenceAllele": "C", "start": 868 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000640146.2:c.673C>A" ], "proteinEffect": { "hgvs": "ENSP00000491984.2:p.His225Asn", "hgvsWellDefined": "ENSP00000491984.2:p.His225Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS765357" }, { "coordinates": [ { "allele": "A", "end": 557, "referenceAllele": "C", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000650745.1:n.557C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS771290" }, { "coordinates": [ { "allele": "A", "end": 1929, "referenceAllele": "C", "start": 1928 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000650861.1:n.1929C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS771357" }, { "coordinates": [ { "allele": "A", "end": 119, "referenceAllele": "C", "start": 118 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000651459.1:c.119C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS771679" }, { "coordinates": [ { "allele": "A", "end": 394, "referenceAllele": "C", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000651533.1:n.394C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS771721" }, { "coordinates": [ { "allele": "A", "end": 285, "referenceAllele": "C", "start": 284 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000651668.1:n.285C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS771795" }, { "coordinates": [ { "allele": "A", "end": 1191, "referenceAllele": "C", "start": 1190 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000651794.1:n.1191C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS771859" }, { "coordinates": [ { "allele": "A", "end": 273, "referenceAllele": "C", "start": 272 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000651819.1:n.273C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS771874" }, { "coordinates": [ { "allele": "A", "end": 608, "referenceAllele": "C", "start": 607 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000652579.1:n.608C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772288" }, { "coordinates": [ { "allele": "A", "end": 538, "referenceAllele": "C", "start": 537 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000652724.1:n.538C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS772372" }, { "coordinates": [ { "allele": "A", "end": 1618, "referenceAllele": "C", "start": 1617 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000332351.7:c.1333C>A" ], "proteinEffect": { "hgvs": "ENSP00000331327.3:p.His445Asn", "hgvsWellDefined": "ENSP00000331327.3:p.His445Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS247229" }, { "coordinates": [ { "allele": "A", "end": 1528, "referenceAllele": "C", "start": 1527 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000379077.7:c.*532C>A" ], "proteinEffect": { "hgvs": "ENSP00000368368.3:n.*532C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS272326" }, { "coordinates": [ { "allele": "A", "end": 971, "referenceAllele": "C", "start": 970 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000379079.6:c.697C>A" ], "proteinEffect": { "hgvs": "ENSP00000368370.2:p.His233Asn", "hgvsWellDefined": "ENSP00000368370.2:p.His233Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS247160" }, { "coordinates": [ { "allele": "A", "end": 1523, "referenceAllele": "C", "start": 1522 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000448076.7:c.1333C>A" ], "proteinEffect": { "hgvs": "ENSP00000413452.3:p.His445Asn", "hgvsWellDefined": "ENSP00000413452.3:p.His445Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS246732" }, { "coordinates": [ { "allele": "A", "end": 1282, "referenceAllele": "C", "start": 1281 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000452863.7:c.1282C>A" ], "proteinEffect": { "hgvs": "ENSP00000415516.3:p.His428Asn", "hgvsWellDefined": "ENSP00000415516.3:p.His428Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS247261" }, { "coordinates": [ { "allele": "A", "end": 320, "endIntronDirection": "-", "endIntronOffset": 607, "referenceAllele": "C", "start": 320, "startIntronDirection": "-", "startIntronOffset": 608 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000527882.5:c.321-608C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS247333" }, { "coordinates": [ { "allele": "A", "end": 920, "referenceAllele": "C", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "ENST00000530998.5:c.646C>A" ], "proteinEffect": { "hgvs": "ENSP00000435307.1:p.His216Asn", "hgvsWellDefined": "ENSP00000435307.1:p.His216Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS247343" }, { "coordinates": [ { "allele": "A", "end": 1472, "referenceAllele": "C", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_000378.4:c.1282C>A" ], "proteinEffect": { "hgvs": "NP_000369.3:p.His428Asn", "hgvsWellDefined": "NP_000369.3:p.His428Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS006440" }, { "coordinates": [ { "allele": "A", "end": 975, "referenceAllele": "C", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_001198551.1:c.697C>A", "LRG_525t2:c.697C>A" ], "proteinEffect": { "hgvs": "NP_001185480.1:p.His233Asn", "hgvsWellDefined": "NP_001185480.1:p.His233Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS016775" }, { "coordinates": [ { "allele": "A", "end": 924, "referenceAllele": "C", "start": 923 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_001198552.1:c.646C>A" ], "proteinEffect": { "hgvs": "NP_001185481.1:p.His216Asn", "hgvsWellDefined": "NP_001185481.1:p.His216Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS016776" }, { "coordinates": [ { "allele": "A", "end": 1523, "referenceAllele": "C", "start": 1522 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_024424.3:c.1333C>A" ], "proteinEffect": { "hgvs": "NP_077742.2:p.His445Asn", "hgvsWellDefined": "NP_077742.2:p.His445Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS037765" }, { "coordinates": [ { "allele": "A", "end": 1523, "referenceAllele": "C", "start": 1522 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_024426.4:c.1333C>A" ], "proteinEffect": { "hgvs": "NP_077744.3:p.His445Asn", "hgvsWellDefined": "NP_077744.3:p.His445Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS037766" }, { "coordinates": [ { "allele": "A", "end": 1476, "referenceAllele": "C", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_000378.5:c.1297C>A" ], "proteinEffect": { "hgvs": "NP_000369.4:p.His433Asn", "hgvsWellDefined": "NP_000369.4:p.His433Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS510785" }, { "coordinates": [ { "allele": "A", "end": 1527, "referenceAllele": "C", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_024424.4:c.1348C>A" ], "proteinEffect": { "hgvs": "NP_077742.3:p.His450Asn", "hgvsWellDefined": "NP_077742.3:p.His450Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS526153" }, { "@id": "http://reg.genome.network/allele/PA3077698037", "coordinates": [ { "allele": "A", "end": 1527, "referenceAllele": "C", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_024426.5:c.1348C>A" ], "proteinEffect": { "hgvs": "NP_077744.4:p.His450Asn", "hgvsWellDefined": "NP_077744.4:p.His450Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS526154" }, { "coordinates": [ { "allele": "A", "end": 587, "referenceAllele": "C", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_001367854.1:c.160C>A" ], "proteinEffect": { "hgvs": "NP_001354783.1:p.His54Asn", "hgvsWellDefined": "NP_001354783.1:p.His54Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS664892" }, { "coordinates": [ { "allele": "A", "end": 1680, "referenceAllele": "C", "start": 1679 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NR_160306.1:n.1680C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673465" }, { "coordinates": [ { "allele": "A", "end": 1476, "referenceAllele": "C", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_000378.6:c.1297C>A" ], "proteinEffect": { "hgvs": "NP_000369.4:p.His433Asn", "hgvsWellDefined": "NP_000369.4:p.His433Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS674818" }, { "coordinates": [ { "allele": "A", "end": 920, "referenceAllele": "C", "start": 919 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_001198552.2:c.646C>A" ], "proteinEffect": { "hgvs": "NP_001185481.1:p.His216Asn", "hgvsWellDefined": "NP_001185481.1:p.His216Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS679392" }, { "coordinates": [ { "allele": "A", "end": 1527, "referenceAllele": "C", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_024424.5:c.1348C>A" ], "proteinEffect": { "hgvs": "NP_077742.3:p.His450Asn", "hgvsWellDefined": "NP_077742.3:p.His450Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS698694" }, { "@id": "http://reg.genome.network/allele/PA3077698037", "coordinates": [ { "allele": "A", "end": 1527, "referenceAllele": "C", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN012796", "geneNCBI_id": 7490, "geneSymbol": "WT1", "hgvs": [ "NM_024426.6:c.1348C>A" ], "proteinEffect": { "hgvs": "NP_077744.4:p.His450Asn", "hgvsWellDefined": "NP_077744.4:p.His450Asn" }, "referenceSequence": "http://reg.genome.network/refseq/RS698695", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000452863.10:c.1348C>A" }, "RefSeq": { "hgvs": "NM_024426.6:c.1348C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000415516.5:p.His450Asn" }, "RefSeq": { "hgvs": "NP_077744.4:p.His450Asn" } } } } ], "type": "nucleotide" }