{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA346827", "communityStandardTitle": [ "NM_001370298.3(FGD4):c.2560G>A (p.Val854Met)" ], "externalRecords": { "COSMIC": [ { "active": false, "id": "COSM4982453" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186165[alleleid]", "alleleId": 186165, "preferredName": "NM_001370298.3(FGD4):c.2560G>A (p.Val854Met)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188373", "RCV": [ "RCV000236955", "RCV000727143", "RCV001080120", "RCV001114409", "RCV002426801", "RCV003937521" ], "variationId": 188373 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/12-32793315-G-A", "id": "12-32793315-G-A", "variant": "12:32793315 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.32793315G>A?assembly=hg19", "id": "chr12:g.32793315G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.32640381G>A?assembly=hg38", "id": "chr12:g.32640381G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/61753359", "rs": 61753359 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-32793315-G-A?dataset=gnomad_r2_1", "id": "12-32793315-G-A", "variant": "12:32793315 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-32640381-G-A?dataset=gnomad_r3", "id": "12-32640381-G-A", "variant": "12:32640381 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-32640381-G-A?dataset=gnomad_r4", "id": "12-32640381-G-A", "variant": "12:32640381 G / A" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 32640381, "referenceAllele": "G", "start": 32640380 } ], "hgvs": [ "NC_000012.12:g.32640381G>A", "CM000674.2:g.32640381G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 32793315, "referenceAllele": "G", "start": 32793314 } ], "hgvs": [ "NC_000012.11:g.32793315G>A", "CM000674.1:g.32793315G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 32684582, "referenceAllele": "G", "start": 32684581 } ], "hgvs": [ "NC_000012.10:g.32684582G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "A", "end": 245853, "referenceAllele": "G", "start": 245852 } ], "hgvs": [ "NG_008626.2:g.245853G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001133" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 2698, "referenceAllele": "G", "start": 2697 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000427716.7:c.2149G>A" ], "proteinEffect": { "hgvs": "ENSP00000394487.2:p.Val717Met", "hgvsWellDefined": "ENSP00000394487.2:p.Val717Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS824791" }, { "coordinates": [ { "allele": "A", "end": 2566, "referenceAllele": "G", "start": 2565 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000531134.7:c.2404G>A" ], "proteinEffect": { "hgvs": "ENSP00000431323.1:p.Val802Met", "hgvsWellDefined": "ENSP00000431323.1:p.Val802Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS825798" }, { "coordinates": [ { "allele": "A", "end": 2573, "referenceAllele": "G", "start": 2572 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000583694.2:c.2149G>A" ], "proteinEffect": { "hgvs": "ENSP00000462623.2:p.Val717Met", "hgvsWellDefined": "ENSP00000462623.2:p.Val717Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS826223" }, { "coordinates": [ { "allele": "A", "end": 3104, "referenceAllele": "G", "start": 3103 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000682739.1:c.1870G>A" ], "proteinEffect": { "hgvs": "ENSP00000507616.1:p.Val624Met", "hgvsWellDefined": "ENSP00000507616.1:p.Val624Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS827728" }, { "coordinates": [ { "allele": "A", "end": 1708, "referenceAllele": "G", "start": 1707 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000683182.1:c.961G>A" ], "proteinEffect": { "hgvs": "ENSP00000507831.1:p.Val321Met", "hgvsWellDefined": "ENSP00000507831.1:p.Val321Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS828166" }, { "coordinates": [ { "allele": "A", "end": 947, "referenceAllele": "G", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000684033.1:n.947G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828994" }, { "coordinates": [ { "allele": "A", "end": 2569, "referenceAllele": "G", "start": 2568 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000525053.6:c.2149G>A" ], "proteinEffect": { "hgvs": "ENSP00000433666.2:p.Val717Met", "hgvsWellDefined": "ENSP00000433666.2:p.Val717Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS758894" }, { "coordinates": [ { "allele": "A", "end": 2566, "referenceAllele": "G", "start": 2565 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000531134.6:c.2404G>A" ], "proteinEffect": { "hgvs": "ENSP00000431323.1:p.Val802Met", "hgvsWellDefined": "ENSP00000431323.1:p.Val802Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS759219" }, { "coordinates": [ { "allele": "A", "end": 2796, "referenceAllele": "G", "start": 2795 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000534526.7:c.2560G>A" ], "proteinEffect": { "hgvs": "ENSP00000449273.1:p.Val854Met", "hgvsWellDefined": "ENSP00000449273.1:p.Val854Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS759401", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000534526.7:c.2560G>A" }, "RefSeq": { "hgvs": "NM_001370298.3:c.2560G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000449273.1:p.Val854Met" }, "RefSeq": { "hgvs": "NP_001357227.2:p.Val854Met" } } } }, { "coordinates": [ { "allele": "A", "end": 2573, "referenceAllele": "G", "start": 2572 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000427716.6:c.2149G>A" ], "proteinEffect": { "hgvs": "ENSP00000394487.2:p.Val717Met", "hgvsWellDefined": "ENSP00000394487.2:p.Val717Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS289833" }, { "coordinates": [ { "allele": "A", "end": 2718, "referenceAllele": "G", "start": 2717 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000493087.5:c.*1560G>A" ], "proteinEffect": { "hgvs": "ENSP00000437109.1:n.*1560G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS330317" }, { "coordinates": [ { "allele": "A", "end": 2037, "referenceAllele": "G", "start": 2036 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000494977.1:c.2037G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS331781" }, { "coordinates": [ { "allele": "A", "end": 2569, "referenceAllele": "G", "start": 2568 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000525053.5:c.2485G>A" ], "proteinEffect": { "hgvs": "ENSP00000433666.1:p.Val829Met", "hgvsWellDefined": "ENSP00000433666.1:p.Val829Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS351129" }, { "coordinates": [ { "allele": "A", "end": 2566, "referenceAllele": "G", "start": 2565 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000531134.5:c.2404G>A" ], "proteinEffect": { "hgvs": "ENSP00000431323.1:p.Val802Met", "hgvsWellDefined": "ENSP00000431323.1:p.Val802Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS356279" }, { "coordinates": [ { "allele": "A", "end": 2825, "referenceAllele": "G", "start": 2824 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000534526.6:c.2560G>A" ], "proteinEffect": { "hgvs": "ENSP00000449273.1:p.Val854Met", "hgvsWellDefined": "ENSP00000449273.1:p.Val854Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS359124" }, { "coordinates": [ { "allele": "A", "end": 2365, "referenceAllele": "G", "start": 2364 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000546442.5:c.1870G>A" ], "proteinEffect": { "hgvs": "ENSP00000446695.1:p.Val624Met", "hgvsWellDefined": "ENSP00000446695.1:p.Val624Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS365642" }, { "coordinates": [ { "allele": "A", "end": 2068, "referenceAllele": "G", "start": 2067 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "ENST00000551984.5:c.*1518G>A" ], "proteinEffect": { "hgvs": "ENSP00000449614.1:n.*1518G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS368981" }, { "@id": "http://reg.genome.network/allele/PA645446658", "coordinates": [ { "allele": "A", "end": 2600, "referenceAllele": "G", "start": 2599 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001304480.1:c.2485G>A" ], "proteinEffect": { "hgvs": "NP_001291409.1:p.Val829Met", "hgvsWellDefined": "NP_001291409.1:p.Val829Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS025713" }, { "@id": "http://reg.genome.network/allele/PA2826892658", "coordinates": [ { "allele": "A", "end": 2566, "referenceAllele": "G", "start": 2565 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001304481.1:c.2404G>A" ], "proteinEffect": { "hgvs": "NP_001291410.1:p.Val802Met", "hgvsWellDefined": "NP_001291410.1:p.Val802Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS025714" }, { "@id": "http://reg.genome.network/allele/PA2826893914", "coordinates": [ { "allele": "A", "end": 2809, "referenceAllele": "G", "start": 2808 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001304484.1:c.1117G>A" ], "proteinEffect": { "hgvs": "NP_001291413.1:p.Val373Met", "hgvsWellDefined": "NP_001291413.1:p.Val373Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS025717" }, { "@id": "http://reg.genome.network/allele/PA346828", "coordinates": [ { "allele": "A", "end": 2690, "referenceAllele": "G", "start": 2689 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_139241.3:c.2149G>A" ], "proteinEffect": { "hgvs": "NP_640334.2:p.Val717Met", "hgvsWellDefined": "NP_640334.2:p.Val717Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS041032" }, { "coordinates": [ { "allele": "A", "end": 2813, "referenceAllele": "G", "start": 2812 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_005253304.3:c.2641G>A" ], "proteinEffect": { "hgvs": "XP_005253361.1:p.Val881Met", "hgvsWellDefined": "XP_005253361.1:p.Val881Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS060242" }, { "coordinates": [ { "allele": "A", "end": 2499, "referenceAllele": "G", "start": 2498 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_005253307.2:c.1870G>A" ], "proteinEffect": { "hgvs": "XP_005253364.1:p.Val624Met", "hgvsWellDefined": "XP_005253364.1:p.Val624Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS060243" }, { "coordinates": [ { "allele": "A", "end": 2395, "referenceAllele": "G", "start": 2394 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_005253308.3:c.1870G>A" ], "proteinEffect": { "hgvs": "XP_005253365.1:p.Val624Met", "hgvsWellDefined": "XP_005253365.1:p.Val624Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS060244" }, { "coordinates": [ { "allele": "A", "end": 2314, "referenceAllele": "G", "start": 2313 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_005253309.1:c.1870G>A" ], "proteinEffect": { "hgvs": "XP_005253366.1:p.Val624Met", "hgvsWellDefined": "XP_005253366.1:p.Val624Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS060245" }, { "coordinates": [ { "allele": "A", "end": 1484, "referenceAllele": "G", "start": 1483 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_005253310.3:c.1405G>A" ], "proteinEffect": { "hgvs": "XP_005253367.1:p.Val469Met", "hgvsWellDefined": "XP_005253367.1:p.Val469Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS060246" }, { "coordinates": [ { "allele": "A", "end": 2474, "referenceAllele": "G", "start": 2473 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_011520554.1:c.2443G>A" ], "proteinEffect": { "hgvs": "XP_011518856.1:p.Val815Met", "hgvsWellDefined": "XP_011518856.1:p.Val815Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS087721" }, { "coordinates": [ { "allele": "A", "end": 2516, "referenceAllele": "G", "start": 2515 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_011520555.1:c.2149G>A" ], "proteinEffect": { "hgvs": "XP_011518857.1:p.Val717Met", "hgvsWellDefined": "XP_011518857.1:p.Val717Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS087722" }, { "coordinates": [ { "allele": "A", "end": 2745, "referenceAllele": "G", "start": 2744 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_011520556.1:c.2149G>A" ], "proteinEffect": { "hgvs": "XP_011518858.1:p.Val717Met", "hgvsWellDefined": "XP_011518858.1:p.Val717Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS087723" }, { "coordinates": [ { "allele": "A", "end": 1908, "referenceAllele": "G", "start": 1907 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_011520557.1:c.1597G>A" ], "proteinEffect": { "hgvs": "XP_011518859.1:p.Val533Met", "hgvsWellDefined": "XP_011518859.1:p.Val533Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS087724" }, { "coordinates": [ { "allele": "A", "end": 1570, "referenceAllele": "G", "start": 1569 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_011520558.1:c.1552G>A" ], "proteinEffect": { "hgvs": "XP_011518860.1:p.Val518Met", "hgvsWellDefined": "XP_011518860.1:p.Val518Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS087725" }, { "coordinates": [ { "allele": "A", "end": 1466, "referenceAllele": "G", "start": 1465 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_011520559.1:c.1384G>A" ], "proteinEffect": { "hgvs": "XP_011518861.1:p.Val462Met", "hgvsWellDefined": "XP_011518861.1:p.Val462Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS087726" }, { "@id": "http://reg.genome.network/allele/PA2827308318", "coordinates": [ { "allele": "A", "end": 2506, "referenceAllele": "G", "start": 2505 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001330373.1:c.1870G>A" ], "proteinEffect": { "hgvs": "NP_001317302.1:p.Val624Met", "hgvsWellDefined": "NP_001317302.1:p.Val624Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS516754" }, { "@id": "http://reg.genome.network/allele/PA2827308794", "coordinates": [ { "allele": "A", "end": 2382, "referenceAllele": "G", "start": 2381 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001330374.1:c.1870G>A" ], "proteinEffect": { "hgvs": "NP_001317303.1:p.Val624Met", "hgvsWellDefined": "NP_001317303.1:p.Val624Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS516755" }, { "coordinates": [ { "allele": "A", "end": 2826, "referenceAllele": "G", "start": 2825 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_005253304.4:c.2641G>A" ], "proteinEffect": { "hgvs": "XP_005253361.1:p.Val881Met", "hgvsWellDefined": "XP_005253361.1:p.Val881Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS533941" }, { "coordinates": [ { "allele": "A", "end": 2862, "referenceAllele": "G", "start": 2861 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_005253308.5:c.1870G>A" ], "proteinEffect": { "hgvs": "XP_005253365.1:p.Val624Met", "hgvsWellDefined": "XP_005253365.1:p.Val624Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS533942" }, { "coordinates": [ { "allele": "A", "end": 2006, "referenceAllele": "G", "start": 2005 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_005253310.4:c.1405G>A" ], "proteinEffect": { "hgvs": "XP_005253367.1:p.Val469Met", "hgvsWellDefined": "XP_005253367.1:p.Val469Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS533943" }, { "coordinates": [ { "allele": "A", "end": 1628, "referenceAllele": "G", "start": 1627 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_011520558.2:c.1552G>A" ], "proteinEffect": { "hgvs": "XP_011518860.1:p.Val518Met", "hgvsWellDefined": "XP_011518860.1:p.Val518Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS545779" }, { "coordinates": [ { "allele": "A", "end": 1468, "referenceAllele": "G", "start": 1467 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_011520559.3:c.1384G>A" ], "proteinEffect": { "hgvs": "XP_011518861.1:p.Val462Met", "hgvsWellDefined": "XP_011518861.1:p.Val462Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS545780" }, { "coordinates": [ { "allele": "A", "end": 2826, "referenceAllele": "G", "start": 2825 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_017018803.1:c.2641G>A" ], "proteinEffect": { "hgvs": "XP_016874292.1:p.Val881Met", "hgvsWellDefined": "XP_016874292.1:p.Val881Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS570653" }, { "coordinates": [ { "allele": "A", "end": 1804, "referenceAllele": "G", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_017018805.1:c.1597G>A" ], "proteinEffect": { "hgvs": "XP_016874294.1:p.Val533Met", "hgvsWellDefined": "XP_016874294.1:p.Val533Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS570654" }, { "coordinates": [ { "allele": "A", "end": 2962, "referenceAllele": "G", "start": 2961 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_024448837.1:c.1870G>A" ], "proteinEffect": { "hgvs": "XP_024304605.1:p.Val624Met", "hgvsWellDefined": "XP_024304605.1:p.Val624Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS582404" }, { "coordinates": [ { "allele": "A", "end": 2761, "referenceAllele": "G", "start": 2760 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_024448838.1:c.1870G>A" ], "proteinEffect": { "hgvs": "XP_024304606.1:p.Val624Met", "hgvsWellDefined": "XP_024304606.1:p.Val624Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS582405" }, { "coordinates": [ { "allele": "A", "end": 3095, "referenceAllele": "G", "start": 3094 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_024448839.1:c.1870G>A" ], "proteinEffect": { "hgvs": "XP_024304607.1:p.Val624Met", "hgvsWellDefined": "XP_024304607.1:p.Val624Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS582406" }, { "coordinates": [ { "allele": "A", "end": 1711, "referenceAllele": "G", "start": 1710 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "XM_024448840.1:c.1258G>A" ], "proteinEffect": { "hgvs": "XP_024304608.1:p.Val420Met", "hgvsWellDefined": "XP_024304608.1:p.Val420Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS582407" }, { "@id": "http://reg.genome.network/allele/PA2828405287", "coordinates": [ { "allele": "A", "end": 1878, "referenceAllele": "G", "start": 1877 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001370297.1:c.1597G>A" ], "proteinEffect": { "hgvs": "NP_001357226.1:p.Val533Met", "hgvsWellDefined": "NP_001357226.1:p.Val533Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS692304" }, { "@id": "http://reg.genome.network/allele/PA916048381", "coordinates": [ { "allele": "A", "end": 2796, "referenceAllele": "G", "start": 2795 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001370298.1:c.2641G>A" ], "proteinEffect": { "hgvs": "NP_001357227.1:p.Val881Met", "hgvsWellDefined": "NP_001357227.1:p.Val881Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS692305" }, { "@id": "http://reg.genome.network/allele/PA2826893914", "coordinates": [ { "allele": "A", "end": 2689, "referenceAllele": "G", "start": 2688 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001304484.2:c.1117G>A" ], "proteinEffect": { "hgvs": "NP_001291413.1:p.Val373Met", "hgvsWellDefined": "NP_001291413.1:p.Val373Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS717102" }, { "@id": "http://reg.genome.network/allele/PA2827308318", "coordinates": [ { "allele": "A", "end": 2386, "referenceAllele": "G", "start": 2385 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001330373.2:c.1870G>A" ], "proteinEffect": { "hgvs": "NP_001317302.1:p.Val624Met", "hgvsWellDefined": "NP_001317302.1:p.Val624Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS718663" }, { "@id": "http://reg.genome.network/allele/PA2827308794", "coordinates": [ { "allele": "A", "end": 2382, "referenceAllele": "G", "start": 2381 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001330374.2:c.1870G>A" ], "proteinEffect": { "hgvs": "NP_001317303.1:p.Val624Met", "hgvsWellDefined": "NP_001317303.1:p.Val624Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS718664" }, { "@id": "http://reg.genome.network/allele/PA2828405669", "coordinates": [ { "allele": "A", "end": 2796, "referenceAllele": "G", "start": 2795 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001370298.3:c.2560G>A" ], "proteinEffect": { "hgvs": "NP_001357227.2:p.Val854Met", "hgvsWellDefined": "NP_001357227.2:p.Val854Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS721168", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000534526.7:c.2560G>A" }, "RefSeq": { "hgvs": "NM_001370298.3:c.2560G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000449273.1:p.Val854Met" }, "RefSeq": { "hgvs": "NP_001357227.2:p.Val854Met" } } } }, { "@id": "http://reg.genome.network/allele/PA2573077257", "coordinates": [ { "allele": "A", "end": 2796, "referenceAllele": "G", "start": 2795 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001384126.1:c.2560G>A" ], "proteinEffect": { "hgvs": "NP_001371055.1:p.Val854Met", "hgvsWellDefined": "NP_001371055.1:p.Val854Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS722655" }, { "@id": "http://reg.genome.network/allele/PA2828933691", "coordinates": [ { "allele": "A", "end": 2570, "referenceAllele": "G", "start": 2569 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001384127.1:c.2149G>A" ], "proteinEffect": { "hgvs": "NP_001371056.1:p.Val717Met", "hgvsWellDefined": "NP_001371056.1:p.Val717Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS722656" }, { "@id": "http://reg.genome.network/allele/PA2828934057", "coordinates": [ { "allele": "A", "end": 2571, "referenceAllele": "G", "start": 2570 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001384128.1:c.2149G>A" ], "proteinEffect": { "hgvs": "NP_001371057.1:p.Val717Met", "hgvsWellDefined": "NP_001371057.1:p.Val717Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS722657" }, { "@id": "http://reg.genome.network/allele/PA2828934338", "coordinates": [ { "allele": "A", "end": 2387, "referenceAllele": "G", "start": 2386 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001384130.1:c.1870G>A" ], "proteinEffect": { "hgvs": "NP_001371059.1:p.Val624Met", "hgvsWellDefined": "NP_001371059.1:p.Val624Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS722658" }, { "@id": "http://reg.genome.network/allele/PA2829012230", "coordinates": [ { "allele": "A", "end": 2571, "referenceAllele": "G", "start": 2570 } ], "gene": "http://reg.genome.network/gene/GN019125", "geneNCBI_id": 121512, "geneSymbol": "FGD4", "hgvs": [ "NM_001385118.1:c.2149G>A" ], "proteinEffect": { "hgvs": "NP_001372047.1:p.Val717Met", "hgvsWellDefined": "NP_001372047.1:p.Val717Met" }, "referenceSequence": "http://reg.genome.network/refseq/RS723475" } ], "type": "nucleotide" }