{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA007528", "communityStandardTitle": [ "NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78340[alleleid]", "alleleId": 78340, "preferredName": "NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67444", "RCV": [ "RCV000058171", "RCV000181898", "RCV000588938", "RCV000685653", "RCV001841728" ], "variationId": 67444 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/7-150644799-G-A", "id": "7-150644799-G-A", "variant": "7:150644799 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.150644799G>A?assembly=hg19", "id": "chr7:g.150644799G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.150947711G>A?assembly=hg38", "id": "chr7:g.150947711G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/141401803", "rs": 141401803 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-150644799-G-A?dataset=gnomad_r2_1", "id": "7-150644799-G-A", "variant": "7:150644799 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-150947711-G-A?dataset=gnomad_r3", "id": "7-150947711-G-A", "variant": "7:150947711 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-150947711-G-A?dataset=gnomad_r4", "id": "7-150947711-G-A", "variant": "7:150947711 G / A" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 150947711, "referenceAllele": "G", "start": 150947710 } ], "hgvs": [ "NC_000007.14:g.150947711G>A", "CM000669.2:g.150947711G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 150644799, "referenceAllele": "G", "start": 150644798 } ], "hgvs": [ "NC_000007.13:g.150644799G>A", "CM000669.1:g.150644799G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "A", "end": 150275732, "referenceAllele": "G", "start": 150275731 } ], "hgvs": [ "NC_000007.12:g.150275732G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "T", "end": 35216, "referenceAllele": "C", "start": 35215 } ], "hgvs": [ "NG_008916.1:g.35216C>T", "LRG_288:g.35216C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001295" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3693, "referenceAllele": "C", "start": 3692 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000684241.1:n.3693C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829198" }, { "coordinates": [ { "allele": "T", "end": 3268, "referenceAllele": "C", "start": 3267 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000262186.10:c.2860C>T" ], "proteinEffect": { "hgvs": "ENSP00000262186.5:p.Arg954Cys", "hgvsWellDefined": "ENSP00000262186.5:p.Arg954Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS742291", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262186.10:c.2860C>T" }, "RefSeq": { "hgvs": "NM_000238.4:c.2860C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262186.5:p.Arg954Cys" }, "RefSeq": { "hgvs": "NP_000229.1:p.Arg954Cys" } } } }, { "coordinates": [ { "allele": "T", "end": 2141, "referenceAllele": "C", "start": 2140 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000330883.9:c.1840C>T" ], "proteinEffect": { "hgvs": "ENSP00000328531.4:p.Arg614Cys", "hgvsWellDefined": "ENSP00000328531.4:p.Arg614Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS747106" }, { "coordinates": [ { "allele": "T", "end": 3262, "referenceAllele": "C", "start": 3261 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000262186.9:c.2860C>T" ], "proteinEffect": { "hgvs": "ENSP00000262186.5:p.Arg954Cys", "hgvsWellDefined": "ENSP00000262186.5:p.Arg954Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247143" }, { "coordinates": [ { "allele": "T", "end": 2243, "referenceAllele": "C", "start": 2242 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "ENST00000330883.8:c.1840C>T" ], "proteinEffect": { "hgvs": "ENSP00000328531.4:p.Arg614Cys", "hgvsWellDefined": "ENSP00000328531.4:p.Arg614Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS247395" }, { "@id": "http://reg.genome.network/allele/PA144986", "coordinates": [ { "allele": "T", "end": 3261, "referenceAllele": "C", "start": 3260 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_000238.3:c.2860C>T", "LRG_288t1:c.2860C>T" ], "proteinEffect": { "hgvs": "NP_000229.1:p.Arg954Cys", "hgvsWellDefined": "NP_000229.1:p.Arg954Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS006301" }, { "@id": "http://reg.genome.network/allele/PA144985", "coordinates": [ { "allele": "T", "end": 2166, "referenceAllele": "C", "start": 2165 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_172057.2:c.1840C>T", "LRG_288t3:c.1840C>T" ], "proteinEffect": { "hgvs": "NP_742054.1:p.Arg614Cys", "hgvsWellDefined": "NP_742054.1:p.Arg614Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS042626" }, { "coordinates": [ { "allele": "T", "end": 2575, "referenceAllele": "C", "start": 2574 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516185.1:c.2560C>T" ], "proteinEffect": { "hgvs": "XP_011514487.1:p.Arg854Cys", "hgvsWellDefined": "XP_011514487.1:p.Arg854Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS083388" }, { "coordinates": [ { "allele": "T", "end": 3080, "endIntronDirection": "-", "endIntronOffset": 19, "referenceAllele": "C", "start": 3080, "startIntronDirection": "-", "startIntronOffset": 20 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516186.1:c.2693-20C>T" ], "proteinEffect": { "hgvs": "XP_011514488.1:n.2693-20C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS083389" }, { "coordinates": [ { "allele": "T", "end": 2672, "referenceAllele": "C", "start": 2671 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516185.2:c.2560C>T" ], "proteinEffect": { "hgvs": "XP_011514487.1:p.Arg854Cys", "hgvsWellDefined": "XP_011514487.1:p.Arg854Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS544060" }, { "coordinates": [ { "allele": "T", "end": 2766, "endIntronDirection": "-", "endIntronOffset": 19, "referenceAllele": "C", "start": 2766, "startIntronDirection": "-", "startIntronOffset": 20 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_011516186.3:c.2693-20C>T" ], "proteinEffect": { "hgvs": "XP_011514488.1:n.2693-20C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS544061" }, { "coordinates": [ { "allele": "T", "end": 3342, "referenceAllele": "C", "start": 3341 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_017012195.1:c.2710C>T" ], "proteinEffect": { "hgvs": "XP_016867684.1:p.Arg904Cys", "hgvsWellDefined": "XP_016867684.1:p.Arg904Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS565851" }, { "coordinates": [ { "allele": "T", "end": 2802, "referenceAllele": "C", "start": 2801 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "XM_017012196.1:c.2683C>T" ], "proteinEffect": { "hgvs": "XP_016867685.1:p.Arg895Cys", "hgvsWellDefined": "XP_016867685.1:p.Arg895Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS565852" }, { "@id": "http://reg.genome.network/allele/PA144986", "coordinates": [ { "allele": "T", "end": 3268, "referenceAllele": "C", "start": 3267 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_000238.4:c.2860C>T" ], "proteinEffect": { "hgvs": "NP_000229.1:p.Arg954Cys", "hgvsWellDefined": "NP_000229.1:p.Arg954Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS674756", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000262186.10:c.2860C>T" }, "RefSeq": { "hgvs": "NM_000238.4:c.2860C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000262186.5:p.Arg954Cys" }, "RefSeq": { "hgvs": "NP_000229.1:p.Arg954Cys" } } } }, { "@id": "http://reg.genome.network/allele/PA144985", "coordinates": [ { "allele": "T", "end": 2141, "referenceAllele": "C", "start": 2140 } ], "gene": "http://reg.genome.network/gene/GN006251", "geneNCBI_id": 3757, "geneSymbol": "KCNH2", "hgvs": [ "NM_172057.3:c.1840C>T" ], "proteinEffect": { "hgvs": "NP_742054.1:p.Arg614Cys", "hgvsWellDefined": "NP_742054.1:p.Arg614Cys" }, "referenceSequence": "http://reg.genome.network/refseq/RS729522" } ], "type": "nucleotide" }