{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA409105904", "communityStandardTitle": [ "NM_175914.5(HNF4A):c.445G>C (p.Gly149Arg)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.43043165G>C?assembly=hg19", "id": "chr20:g.43043165G>C" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.44414525G>C?assembly=hg38", "id": "chr20:g.44414525G>C" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/747928745", "rs": 747928745 } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "C", "end": 44414525, "referenceAllele": "G", "start": 44414524 } ], "hgvs": [ "NC_000020.11:g.44414525G>C", "CM000682.2:g.44414525G>C" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "C", "end": 43043165, "referenceAllele": "G", "start": 43043164 } ], "hgvs": [ "NC_000020.10:g.43043165G>C", "CM000682.1:g.43043165G>C" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "C", "end": 42476579, "referenceAllele": "G", "start": 42476578 } ], "hgvs": [ "NC_000020.9:g.42476579G>C" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "C", "end": 63725, "referenceAllele": "G", "start": 63724 } ], "hgvs": [ "NG_009818.1:g.63725G>C", "LRG_483:g.63725G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS001655" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "C", "end": 551, "referenceAllele": "G", "start": 550 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "ENST00000316673.9:c.445G>C" ], "proteinEffect": { "hgvs": "ENSP00000315180.4:p.Gly149Arg", "hgvsWellDefined": "ENSP00000315180.4:p.Gly149Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS904378", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000316673.9:c.445G>C" }, "RefSeq": { "hgvs": "NM_175914.5:c.445G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000315180.4:p.Gly149Arg" }, "RefSeq": { "hgvs": "NP_787110.2:p.Gly149Arg" } } } }, { "coordinates": [ { "allele": "C", "end": 645, "referenceAllele": "G", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "ENST00000316099.10:c.511G>C" ], "proteinEffect": { "hgvs": "ENSP00000312987.3:p.Gly171Arg", "hgvsWellDefined": "ENSP00000312987.3:p.Gly171Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS823829" }, { "coordinates": [ { "allele": "C", "end": 485, "referenceAllele": "G", "start": 484 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "ENST00000619550.5:c.485G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS826528" }, { "coordinates": [ { "allele": "C", "end": 487, "referenceAllele": "G", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "ENST00000683148.1:n.487G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828133" }, { "coordinates": [ { "allele": "C", "end": 1635, "referenceAllele": "G", "start": 1634 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "ENST00000683657.1:n.1635G>C" ], "referenceSequence": "http://reg.genome.network/refseq/RS828628" }, { "coordinates": [ { "allele": "C", "end": 645, "referenceAllele": "G", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "ENST00000316099.9:c.511G>C" ], "proteinEffect": { "hgvs": "ENSP00000312987.3:p.Gly171Arg", "hgvsWellDefined": "ENSP00000312987.3:p.Gly171Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS746036" }, { "coordinates": [ { "allele": "C", "end": 600, "referenceAllele": "G", "start": 599 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "ENST00000316099.8:c.511G>C" ], "proteinEffect": { "hgvs": "ENSP00000312987.3:p.Gly171Arg", "hgvsWellDefined": "ENSP00000312987.3:p.Gly171Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS257180" }, { "coordinates": [ { "allele": "C", "end": 550, "referenceAllele": "G", "start": 549 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "ENST00000316673.8:c.445G>C" ], "proteinEffect": { "hgvs": "ENSP00000315180.4:p.Gly149Arg", "hgvsWellDefined": "ENSP00000315180.4:p.Gly149Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS257264" }, { "coordinates": [ { "allele": "C", "end": 705, "referenceAllele": "G", "start": 704 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "ENST00000372920.1:c.*278G>C" ], "proteinEffect": { "hgvs": "ENSP00000362011.1:n.*278G>C" }, "referenceSequence": "http://reg.genome.network/refseq/RS269383" }, { "coordinates": [ { "allele": "C", "end": 583, "referenceAllele": "G", "start": 582 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "ENST00000415691.2:c.511G>C" ], "proteinEffect": { "hgvs": "ENSP00000412111.1:p.Gly171Arg", "hgvsWellDefined": "ENSP00000412111.1:p.Gly171Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS284107" }, { "coordinates": [ { "allele": "C", "end": 600, "referenceAllele": "G", "start": 599 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "ENST00000443598.6:c.511G>C" ], "proteinEffect": { "hgvs": "ENSP00000410911.2:p.Gly171Arg", "hgvsWellDefined": "ENSP00000410911.2:p.Gly171Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS297419" }, { "coordinates": [ { "allele": "C", "end": 449, "referenceAllele": "G", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "ENST00000457232.5:c.445G>C" ], "proteinEffect": { "hgvs": "ENSP00000396216.1:p.Gly149Arg", "hgvsWellDefined": "ENSP00000396216.1:p.Gly149Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS303856" }, { "coordinates": [ { "allele": "C", "end": 449, "referenceAllele": "G", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "ENST00000609795.5:c.445G>C" ], "proteinEffect": { "hgvs": "ENSP00000476609.1:p.Gly149Arg", "hgvsWellDefined": "ENSP00000476609.1:p.Gly149Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS400281" }, { "coordinates": [ { "allele": "C", "end": 671, "referenceAllele": "G", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "ENST00000619550.4:c.436G>C" ], "proteinEffect": { "hgvs": "ENSP00000481331.1:p.Gly146Arg", "hgvsWellDefined": "ENSP00000481331.1:p.Gly146Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS404426" }, { "@id": "http://reg.genome.network/allele/PA2825145288", "coordinates": [ { "allele": "C", "end": 628, "referenceAllele": "G", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "NM_000457.4:c.511G>C", "LRG_483t2:c.511G>C" ], "proteinEffect": { "hgvs": "NP_000448.3:p.Gly171Arg", "hgvsWellDefined": "NP_000448.3:p.Gly171Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS006519" }, { "@id": "http://reg.genome.network/allele/PA2825345404", "coordinates": [ { "allele": "C", "end": 449, "referenceAllele": "G", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "NM_001030003.2:c.445G>C" ], "proteinEffect": { "hgvs": "NP_001025174.1:p.Gly149Arg", "hgvsWellDefined": "NP_001025174.1:p.Gly149Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS008949" }, { "@id": "http://reg.genome.network/allele/PA2825345679", "coordinates": [ { "allele": "C", "end": 449, "referenceAllele": "G", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "NM_001030004.2:c.445G>C" ], "proteinEffect": { "hgvs": "NP_001025175.1:p.Gly149Arg", "hgvsWellDefined": "NP_001025175.1:p.Gly149Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS008950" }, { "@id": "http://reg.genome.network/allele/PA2826468919", "coordinates": [ { "allele": "C", "end": 719, "referenceAllele": "G", "start": 718 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "NM_001258355.1:c.490G>C" ], "proteinEffect": { "hgvs": "NP_001245284.1:p.Gly164Arg", "hgvsWellDefined": "NP_001245284.1:p.Gly164Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS019823" }, { "@id": "http://reg.genome.network/allele/PA2826734280", "coordinates": [ { "allele": "C", "end": 671, "referenceAllele": "G", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "NM_001287182.1:c.436G>C" ], "proteinEffect": { "hgvs": "NP_001274111.1:p.Gly146Arg", "hgvsWellDefined": "NP_001274111.1:p.Gly146Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS023256" }, { "@id": "http://reg.genome.network/allele/PA2826734549", "coordinates": [ { "allele": "C", "end": 671, "referenceAllele": "G", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "NM_001287183.1:c.436G>C", "LRG_483t3:c.436G>C" ], "proteinEffect": { "hgvs": "NP_001274112.1:p.Gly146Arg", "hgvsWellDefined": "NP_001274112.1:p.Gly146Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS023257" }, { "@id": "http://reg.genome.network/allele/PA2826734815", "coordinates": [ { "allele": "C", "end": 671, "referenceAllele": "G", "start": 670 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "NM_001287184.1:c.436G>C" ], "proteinEffect": { "hgvs": "NP_001274113.1:p.Gly146Arg", "hgvsWellDefined": "NP_001274113.1:p.Gly146Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS023258" }, { "@id": "http://reg.genome.network/allele/PA2830357766", "coordinates": [ { "allele": "C", "end": 449, "referenceAllele": "G", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "NM_175914.4:c.445G>C", "LRG_483t1:c.445G>C" ], "proteinEffect": { "hgvs": "NP_787110.2:p.Gly149Arg", "hgvsWellDefined": "NP_787110.2:p.Gly149Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS043261" }, { "@id": "http://reg.genome.network/allele/PA2830382569", "coordinates": [ { "allele": "C", "end": 628, "referenceAllele": "G", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "NM_178849.2:c.511G>C" ], "proteinEffect": { "hgvs": "NP_849180.1:p.Gly171Arg", "hgvsWellDefined": "NP_849180.1:p.Gly171Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS043635" }, { "@id": "http://reg.genome.network/allele/PA2573100422", "coordinates": [ { "allele": "C", "end": 628, "referenceAllele": "G", "start": 627 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "NM_178850.2:c.511G>C" ], "proteinEffect": { "hgvs": "NP_849181.1:p.Gly171Arg", "hgvsWellDefined": "NP_849181.1:p.Gly171Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS043636" }, { "coordinates": [ { "allele": "C", "end": 716, "referenceAllele": "G", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "XM_005260407.2:c.628G>C" ], "proteinEffect": { "hgvs": "XP_005260464.1:p.Gly210Arg", "hgvsWellDefined": "XP_005260464.1:p.Gly210Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS062773" }, { "coordinates": [ { "allele": "C", "end": 574, "referenceAllele": "G", "start": 573 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "XM_011528797.1:c.559G>C" ], "proteinEffect": { "hgvs": "XP_011527099.1:p.Gly187Arg", "hgvsWellDefined": "XP_011527099.1:p.Gly187Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS095868" }, { "coordinates": [ { "allele": "C", "end": 724, "referenceAllele": "G", "start": 723 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "XM_011528798.1:c.559G>C" ], "proteinEffect": { "hgvs": "XP_011527100.1:p.Gly187Arg", "hgvsWellDefined": "XP_011527100.1:p.Gly187Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS095869" }, { "coordinates": [ { "allele": "C", "end": 749, "referenceAllele": "G", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "XM_005260407.4:c.628G>C" ], "proteinEffect": { "hgvs": "XP_005260464.1:p.Gly210Arg", "hgvsWellDefined": "XP_005260464.1:p.Gly210Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS535174" }, { "@id": "http://reg.genome.network/allele/PA2825345404", "coordinates": [ { "allele": "C", "end": 551, "referenceAllele": "G", "start": 550 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "NM_001030003.3:c.445G>C" ], "proteinEffect": { "hgvs": "NP_001025174.1:p.Gly149Arg", "hgvsWellDefined": "NP_001025174.1:p.Gly149Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS675717" }, { "@id": "http://reg.genome.network/allele/PA2825345679", "coordinates": [ { "allele": "C", "end": 551, "referenceAllele": "G", "start": 550 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "NM_001030004.3:c.445G>C" ], "proteinEffect": { "hgvs": "NP_001025175.1:p.Gly149Arg", "hgvsWellDefined": "NP_001025175.1:p.Gly149Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS675718" }, { "@id": "http://reg.genome.network/allele/PA2826468919", "coordinates": [ { "allele": "C", "end": 736, "referenceAllele": "G", "start": 735 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "NM_001258355.2:c.490G>C" ], "proteinEffect": { "hgvs": "NP_001245284.1:p.Gly164Arg", "hgvsWellDefined": "NP_001245284.1:p.Gly164Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS680822" }, { "@id": "http://reg.genome.network/allele/PA2826734280", "coordinates": [ { "allele": "C", "end": 773, "referenceAllele": "G", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "NM_001287182.2:c.436G>C" ], "proteinEffect": { "hgvs": "NP_001274111.1:p.Gly146Arg", "hgvsWellDefined": "NP_001274111.1:p.Gly146Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS682370" }, { "@id": "http://reg.genome.network/allele/PA2826734815", "coordinates": [ { "allele": "C", "end": 773, "referenceAllele": "G", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "NM_001287184.2:c.436G>C" ], "proteinEffect": { "hgvs": "NP_001274113.1:p.Gly146Arg", "hgvsWellDefined": "NP_001274113.1:p.Gly146Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS682371" }, { "@id": "http://reg.genome.network/allele/PA2830382569", "coordinates": [ { "allele": "C", "end": 645, "referenceAllele": "G", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "NM_178849.3:c.511G>C" ], "proteinEffect": { "hgvs": "NP_849180.1:p.Gly171Arg", "hgvsWellDefined": "NP_849180.1:p.Gly171Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS700899" }, { "@id": "http://reg.genome.network/allele/PA2573100422", "coordinates": [ { "allele": "C", "end": 645, "referenceAllele": "G", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "NM_178850.3:c.511G>C" ], "proteinEffect": { "hgvs": "NP_849181.1:p.Gly171Arg", "hgvsWellDefined": "NP_849181.1:p.Gly171Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS700900" }, { "@id": "http://reg.genome.network/allele/PA2825145288", "coordinates": [ { "allele": "C", "end": 645, "referenceAllele": "G", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "NM_000457.5:c.511G>C" ], "proteinEffect": { "hgvs": "NP_000448.3:p.Gly171Arg", "hgvsWellDefined": "NP_000448.3:p.Gly171Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS710835" }, { "@id": "http://reg.genome.network/allele/PA2825145288", "coordinates": [ { "allele": "C", "end": 645, "referenceAllele": "G", "start": 644 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "NM_000457.6:c.511G>C" ], "proteinEffect": { "hgvs": "NP_000448.3:p.Gly171Arg", "hgvsWellDefined": "NP_000448.3:p.Gly171Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS781559" }, { "@id": "http://reg.genome.network/allele/PA2826734549", "coordinates": [ { "allele": "C", "end": 773, "referenceAllele": "G", "start": 772 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "NM_001287183.2:c.436G>C" ], "proteinEffect": { "hgvs": "NP_001274112.1:p.Gly146Arg", "hgvsWellDefined": "NP_001274112.1:p.Gly146Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS781815" }, { "@id": "http://reg.genome.network/allele/PA2830357766", "coordinates": [ { "allele": "C", "end": 551, "referenceAllele": "G", "start": 550 } ], "gene": "http://reg.genome.network/gene/GN005024", "geneNCBI_id": 3172, "geneSymbol": "HNF4A", "hgvs": [ "NM_175914.5:c.445G>C" ], "proteinEffect": { "hgvs": "NP_787110.2:p.Gly149Arg", "hgvsWellDefined": "NP_787110.2:p.Gly149Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS784325", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000316673.9:c.445G>C" }, "RefSeq": { "hgvs": "NM_175914.5:c.445G>C" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000315180.4:p.Gly149Arg" }, "RefSeq": { "hgvs": "NP_787110.2:p.Gly149Arg" } } } } ], "type": "nucleotide" }