{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA338641371", "communityStandardTitle": [ "NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=792834[alleleid]", "alleleId": 792834, "preferredName": "NM_000085.5(CLCNKB):c.1325A>G (p.Glu442Gly)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/804713", "RCV": [ "RCV000991835", "RCV001195134" ], "variationId": 804713 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.16378232A>G?assembly=hg19", "id": "chr1:g.16378232A>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.16051737A>G?assembly=hg38", "id": "chr1:g.16051737A>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1180658535", "rs": 1180658535 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-16378232-A-G?dataset=gnomad_r2_1", "id": "1-16378232-A-G", "variant": "1:16378232 A / G" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-16051737-A-G?dataset=gnomad_r4", "id": "1-16051737-A-G", "variant": "1:16051737 A / G" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 16051737, "referenceAllele": "A", "start": 16051736 } ], "hgvs": [ "NC_000001.11:g.16051737A>G", "CM000663.2:g.16051737A>G" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 16378232, "referenceAllele": "A", "start": 16378231 } ], "hgvs": [ "NC_000001.10:g.16378232A>G", "CM000663.1:g.16378232A>G" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "G", "end": 16250819, "referenceAllele": "A", "start": 16250818 } ], "hgvs": [ "NC_000001.9:g.16250819A>G" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "G", "end": 12986, "referenceAllele": "A", "start": 12985 } ], "hgvs": [ "NG_013079.1:g.12986A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS002702" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "G", "end": 1735, "referenceAllele": "A", "start": 1734 } ], "gene": "http://reg.genome.network/gene/GN002027", "geneNCBI_id": 1188, "geneSymbol": "CLCNKB", "hgvs": [ "ENST00000682338.1:c.1325A>G" ], "proteinEffect": { "hgvs": "ENSP00000507062.1:p.Glu442Gly", "hgvsWellDefined": "ENSP00000507062.1:p.Glu442Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS827330" }, { "coordinates": [ { "allele": "G", "end": 2005, "referenceAllele": "A", "start": 2004 } ], "gene": "http://reg.genome.network/gene/GN002027", "geneNCBI_id": 1188, "geneSymbol": "CLCNKB", "hgvs": [ "ENST00000682793.1:c.1325A>G" ], "proteinEffect": { "hgvs": "ENSP00000506910.1:p.Glu442Gly", "hgvsWellDefined": "ENSP00000506910.1:p.Glu442Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS827782" }, { "coordinates": [ { "allele": "G", "end": 2132, "referenceAllele": "A", "start": 2131 } ], "gene": "http://reg.genome.network/gene/GN002027", "geneNCBI_id": 1188, "geneSymbol": "CLCNKB", "hgvs": [ "ENST00000682838.1:c.*1067A>G" ], "proteinEffect": { "hgvs": "ENSP00000507652.1:n.*1067A>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS827826" }, { "coordinates": [ { "allele": "G", "end": 1861, "referenceAllele": "A", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN002027", "geneNCBI_id": 1188, "geneSymbol": "CLCNKB", "hgvs": [ "ENST00000683578.1:c.1325A>G" ], "proteinEffect": { "hgvs": "ENSP00000507430.1:p.Glu442Gly", "hgvsWellDefined": "ENSP00000507430.1:p.Glu442Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS828551" }, { "coordinates": [ { "allele": "G", "end": 940, "referenceAllele": "A", "start": 939 } ], "gene": "http://reg.genome.network/gene/GN002027", "geneNCBI_id": 1188, "geneSymbol": "CLCNKB", "hgvs": [ "ENST00000683606.1:n.940A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828578" }, { "coordinates": [ { "allele": "G", "end": 2860, "referenceAllele": "A", "start": 2859 } ], "gene": "http://reg.genome.network/gene/GN002027", "geneNCBI_id": 1188, "geneSymbol": "CLCNKB", "hgvs": [ "ENST00000683661.1:n.2860A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS828632" }, { "coordinates": [ { "allele": "G", "end": 2229, "referenceAllele": "A", "start": 2228 } ], "gene": "http://reg.genome.network/gene/GN002027", "geneNCBI_id": 1188, "geneSymbol": "CLCNKB", "hgvs": [ "ENST00000684324.1:c.1325A>G" ], "proteinEffect": { "hgvs": "ENSP00000507937.1:p.Glu442Gly", "hgvsWellDefined": "ENSP00000507937.1:p.Glu442Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS829279" }, { "coordinates": [ { "allele": "G", "end": 1517, "referenceAllele": "A", "start": 1516 } ], "gene": "http://reg.genome.network/gene/GN002027", "geneNCBI_id": 1188, "geneSymbol": "CLCNKB", "hgvs": [ "ENST00000684545.1:c.1325A>G" ], "proteinEffect": { "hgvs": "ENSP00000506733.1:p.Glu442Gly", "hgvsWellDefined": "ENSP00000506733.1:p.Glu442Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS829498" }, { "coordinates": [ { "allele": "G", "end": 702, "referenceAllele": "A", "start": 701 } ], "gene": "http://reg.genome.network/gene/GN002027", "geneNCBI_id": 1188, "geneSymbol": "CLCNKB", "hgvs": [ "ENST00000684624.1:n.702A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS829576" }, { "coordinates": [ { "allele": "G", "end": 1550, "referenceAllele": "A", "start": 1549 } ], "gene": "http://reg.genome.network/gene/GN002027", "geneNCBI_id": 1188, "geneSymbol": "CLCNKB", "hgvs": [ "ENST00000684714.1:c.1325A>G" ], "proteinEffect": { "hgvs": "ENSP00000506861.1:p.Glu442Gly", "hgvsWellDefined": "ENSP00000506861.1:p.Glu442Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS829665" }, { "coordinates": [ { "allele": "G", "end": 786, "referenceAllele": "A", "start": 785 } ], "gene": "http://reg.genome.network/gene/GN002027", "geneNCBI_id": 1188, "geneSymbol": "CLCNKB", "hgvs": [ "ENST00000684731.1:n.786A>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS829682" }, { "coordinates": [ { "allele": "G", "end": 1431, "referenceAllele": "A", "start": 1430 } ], "gene": "http://reg.genome.network/gene/GN002027", "geneNCBI_id": 1188, "geneSymbol": "CLCNKB", "hgvs": [ "ENST00000375679.9:c.1325A>G" ], "proteinEffect": { "hgvs": "ENSP00000364831.5:p.Glu442Gly", "hgvsWellDefined": "ENSP00000364831.5:p.Glu442Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS751651", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375679.9:c.1325A>G" }, "RefSeq": { "hgvs": "NM_000085.5:c.1325A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364831.5:p.Glu442Gly" }, "RefSeq": { "hgvs": "NP_000076.2:p.Glu442Gly" } } } }, { "coordinates": [ { "allele": "G", "end": 1001, "referenceAllele": "A", "start": 1000 } ], "gene": "http://reg.genome.network/gene/GN002027", "geneNCBI_id": 1188, "geneSymbol": "CLCNKB", "hgvs": [ "ENST00000375667.7:c.818A>G" ], "proteinEffect": { "hgvs": "ENSP00000364819.3:p.Glu273Gly", "hgvsWellDefined": "ENSP00000364819.3:p.Glu273Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS270812" }, { "coordinates": [ { "allele": "G", "end": 1436, "referenceAllele": "A", "start": 1435 } ], "gene": "http://reg.genome.network/gene/GN002027", "geneNCBI_id": 1188, "geneSymbol": "CLCNKB", "hgvs": [ "ENST00000375679.8:c.1325A>G" ], "proteinEffect": { "hgvs": "ENSP00000364831.4:p.Glu442Gly", "hgvsWellDefined": "ENSP00000364831.4:p.Glu442Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS270816" }, { "coordinates": [ { "allele": "G", "end": 1096, "referenceAllele": "A", "start": 1095 } ], "gene": "http://reg.genome.network/gene/GN002027", "geneNCBI_id": 1188, "geneSymbol": "CLCNKB", "hgvs": [ "ENST00000619181.4:c.944A>G" ], "proteinEffect": { "hgvs": "ENSP00000483866.1:p.Glu315Gly", "hgvsWellDefined": "ENSP00000483866.1:p.Glu315Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS404264" }, { "@id": "http://reg.genome.network/allele/PA915954033", "coordinates": [ { "allele": "G", "end": 1477, "referenceAllele": "A", "start": 1476 } ], "gene": "http://reg.genome.network/gene/GN002027", "geneNCBI_id": 1188, "geneSymbol": "CLCNKB", "hgvs": [ "NM_000085.4:c.1325A>G" ], "proteinEffect": { "hgvs": "NP_000076.2:p.Glu442Gly", "hgvsWellDefined": "NP_000076.2:p.Glu442Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS006149" }, { "@id": "http://reg.genome.network/allele/PA2826007913", "coordinates": [ { "allele": "G", "end": 1028, "referenceAllele": "A", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN002027", "geneNCBI_id": 1188, "geneSymbol": "CLCNKB", "hgvs": [ "NM_001165945.2:c.818A>G" ], "proteinEffect": { "hgvs": "NP_001159417.2:p.Glu273Gly", "hgvsWellDefined": "NP_001159417.2:p.Glu273Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS014736" }, { "coordinates": [ { "allele": "G", "end": 1634, "referenceAllele": "A", "start": 1633 } ], "gene": "http://reg.genome.network/gene/GN002027", "geneNCBI_id": 1188, "geneSymbol": "CLCNKB", "hgvs": [ "XM_011540619.1:c.1166A>G" ], "proteinEffect": { "hgvs": "XP_011538921.1:p.Glu389Gly", "hgvsWellDefined": "XP_011538921.1:p.Glu389Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS107563" }, { "coordinates": [ { "allele": "G", "end": 1477, "referenceAllele": "A", "start": 1476 } ], "gene": "http://reg.genome.network/gene/GN002027", "geneNCBI_id": 1188, "geneSymbol": "CLCNKB", "hgvs": [ "XM_011540620.1:c.1325A>G" ], "proteinEffect": { "hgvs": "XP_011538922.1:p.Glu442Gly", "hgvsWellDefined": "XP_011538922.1:p.Glu442Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS107564" }, { "coordinates": [ { "allele": "G", "end": 966, "referenceAllele": "A", "start": 965 } ], "gene": "http://reg.genome.network/gene/GN002027", "geneNCBI_id": 1188, "geneSymbol": "CLCNKB", "hgvs": [ "XM_011540621.1:c.674A>G" ], "proteinEffect": { "hgvs": "XP_011538923.1:p.Glu225Gly", "hgvsWellDefined": "XP_011538923.1:p.Glu225Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS107565" }, { "@id": "http://reg.genome.network/allele/PA915954033", "coordinates": [ { "allele": "G", "end": 1431, "referenceAllele": "A", "start": 1430 } ], "gene": "http://reg.genome.network/gene/GN002027", "geneNCBI_id": 1188, "geneSymbol": "CLCNKB", "hgvs": [ "NM_000085.5:c.1325A>G" ], "proteinEffect": { "hgvs": "NP_000076.2:p.Glu442Gly", "hgvsWellDefined": "NP_000076.2:p.Glu442Gly" }, "referenceSequence": "http://reg.genome.network/refseq/RS674693", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000375679.9:c.1325A>G" }, "RefSeq": { "hgvs": "NM_000085.5:c.1325A>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000364831.5:p.Glu442Gly" }, "RefSeq": { "hgvs": "NP_000076.2:p.Glu442Gly" } } } } ], "type": "nucleotide" }