{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA7860140", "communityStandardTitle": [ "NM_000243.3(MEFV):c.1382G>A (p.Arg461Gln)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=231937[alleleid]", "alleleId": 231937, "preferredName": "NM_000243.3(MEFV):c.1382G>A (p.Arg461Gln)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/234362", "RCV": [ "RCV000589998", "RCV001089281" ], "variationId": 234362 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-3297221-C-T", "id": "16-3297221-C-T", "variant": "16:3297221 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.3297221C>T?assembly=hg19", "id": "chr16:g.3297221C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.3247221C>T?assembly=hg38", "id": "chr16:g.3247221C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/145637617", "rs": 145637617 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-3297221-C-T?dataset=gnomad_r2_1", "id": "16-3297221-C-T", "variant": "16:3297221 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-3247221-C-T?dataset=gnomad_r3", "id": "16-3247221-C-T", "variant": "16:3247221 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-3247221-C-T?dataset=gnomad_r4", "id": "16-3247221-C-T", "variant": "16:3247221 C / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 3247221, "referenceAllele": "C", "start": 3247220 } ], "hgvs": [ "NC_000016.10:g.3247221C>T", "CM000678.2:g.3247221C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 3297221, "referenceAllele": "C", "start": 3297220 } ], "hgvs": [ "NC_000016.9:g.3297221C>T", "CM000678.1:g.3297221C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 3237222, "referenceAllele": "C", "start": 3237221 } ], "hgvs": [ "NC_000016.8:g.3237222C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 14407, "referenceAllele": "G", "start": 14406 } ], "hgvs": [ "NG_007871.1:g.14407G>A", "LRG_190:g.14407G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000680" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1428, "referenceAllele": "G", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000219596.6:c.1382G>A" ], "proteinEffect": { "hgvs": "ENSP00000219596.1:p.Arg461Gln", "hgvsWellDefined": "ENSP00000219596.1:p.Arg461Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS740442", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219596.6:c.1382G>A" }, "RefSeq": { "hgvs": "NM_000243.3:c.1382G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219596.1:p.Arg461Gln" }, "RefSeq": { "hgvs": "NP_000234.1:p.Arg461Gln" } } } }, { "coordinates": [ { "allele": "A", "end": 1422, "referenceAllele": "G", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000219596.5:c.1382G>A" ], "proteinEffect": { "hgvs": "ENSP00000219596.1:p.Arg461Gln", "hgvsWellDefined": "ENSP00000219596.1:p.Arg461Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS248198" }, { "coordinates": [ { "allele": "A", "end": 882, "referenceAllele": "G", "start": 881 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000339854.8:c.842G>A" ], "proteinEffect": { "hgvs": "ENSP00000339639.4:p.Arg281Gln", "hgvsWellDefined": "ENSP00000339639.4:p.Arg281Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS260963" }, { "coordinates": [ { "allele": "A", "end": 749, "referenceAllele": "G", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000536379.5:c.749G>A" ], "proteinEffect": { "hgvs": "ENSP00000445079.1:p.Arg250Gln", "hgvsWellDefined": "ENSP00000445079.1:p.Arg250Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS360237" }, { "coordinates": [ { "allele": "A", "end": 789, "referenceAllele": "G", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000536980.5:c.749G>A" ], "proteinEffect": { "hgvs": "ENSP00000444178.1:p.Arg250Gln", "hgvsWellDefined": "ENSP00000444178.1:p.Arg250Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS360536" }, { "coordinates": [ { "allele": "A", "end": 1422, "referenceAllele": "G", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000537682.5:c.1382G>A" ], "proteinEffect": { "hgvs": "ENSP00000438611.1:p.Arg461Gln", "hgvsWellDefined": "ENSP00000438611.1:p.Arg461Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS360904" }, { "coordinates": [ { "allele": "A", "end": 1520, "referenceAllele": "G", "start": 1519 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000538326.5:c.*7G>A" ], "proteinEffect": { "hgvs": "ENSP00000437486.1:n.*7G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS361258" }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "G", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000539145.5:c.303G>A" ], "proteinEffect": { "hgvs": "ENSP00000444471.1:n.303G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS361697" }, { "coordinates": [ { "allele": "A", "end": 747, "referenceAllele": "G", "start": 746 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000539154.1:n.747G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS361700" }, { "coordinates": [ { "allele": "A", "end": 749, "referenceAllele": "G", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000541159.5:c.749G>A" ], "proteinEffect": { "hgvs": "ENSP00000438711.1:p.Arg250Gln", "hgvsWellDefined": "ENSP00000438711.1:p.Arg250Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS362786" }, { "coordinates": [ { "allele": "A", "end": 1515, "referenceAllele": "G", "start": 1514 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000542898.5:c.1475G>A" ], "proteinEffect": { "hgvs": "ENSP00000444615.1:p.Arg492Gln", "hgvsWellDefined": "ENSP00000444615.1:p.Arg492Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS363711" }, { "coordinates": [ { "allele": "A", "end": 936, "referenceAllele": "G", "start": 935 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000570511.5:c.936G>A" ], "proteinEffect": { "hgvs": "ENSP00000458312.1:n.936G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS382123" }, { "coordinates": [ { "allele": "A", "end": 277, "endIntronDirection": "-", "endIntronOffset": 673, "referenceAllele": "G", "start": 277, "startIntronDirection": "-", "startIntronOffset": 674 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000572244.5:c.278-674G>A" ], "proteinEffect": { "hgvs": "ENSP00000461186.1:n.278-674G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS382841" }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "G", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000574583.5:c.303G>A" ], "proteinEffect": { "hgvs": "ENSP00000460269.1:n.303G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS383748" }, { "coordinates": [ { "allele": "A", "end": 303, "referenceAllele": "G", "start": 302 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000576315.5:c.303G>A" ], "proteinEffect": { "hgvs": "ENSP00000460551.1:n.303G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS384430" }, { "coordinates": [ { "allele": "A", "end": 749, "referenceAllele": "G", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "ENST00000621655.1:c.749G>A" ], "proteinEffect": { "hgvs": "ENSP00000481436.1:p.Arg250Gln", "hgvsWellDefined": "ENSP00000481436.1:p.Arg250Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS405372" }, { "@id": "http://reg.genome.network/allele/PA645381541", "coordinates": [ { "allele": "A", "end": 1422, "referenceAllele": "G", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_000243.2:c.1382G>A", "LRG_190t1:c.1382G>A" ], "proteinEffect": { "hgvs": "NP_000234.1:p.Arg461Gln", "hgvsWellDefined": "NP_000234.1:p.Arg461Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS006305" }, { "coordinates": [ { "allele": "A", "end": 789, "referenceAllele": "G", "start": 788 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_001198536.1:c.749G>A" ], "proteinEffect": { "hgvs": "NP_001185465.1:p.Arg250Gln", "hgvsWellDefined": "NP_001185465.1:p.Arg250Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS016767" }, { "coordinates": [ { "allele": "A", "end": 1561, "referenceAllele": "G", "start": 1560 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "XM_017023236.2:c.1379G>A" ], "proteinEffect": { "hgvs": "XP_016878725.1:p.Arg460Gln", "hgvsWellDefined": "XP_016878725.1:p.Arg460Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS574032" }, { "coordinates": [ { "allele": "A", "end": 1571, "referenceAllele": "G", "start": 1570 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "XR_001751903.1:n.1571G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS598691" }, { "@id": "http://reg.genome.network/allele/PA645381541", "coordinates": [ { "allele": "A", "end": 1428, "referenceAllele": "G", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_000243.3:c.1382G>A" ], "proteinEffect": { "hgvs": "NP_000234.1:p.Arg461Gln", "hgvsWellDefined": "NP_000234.1:p.Arg461Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS674759", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000219596.6:c.1382G>A" }, "RefSeq": { "hgvs": "NM_000243.3:c.1382G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000219596.1:p.Arg461Gln" }, "RefSeq": { "hgvs": "NP_000234.1:p.Arg461Gln" } } } }, { "@id": "http://reg.genome.network/allele/PA2826174673", "coordinates": [ { "allele": "A", "end": 795, "referenceAllele": "G", "start": 794 } ], "gene": "http://reg.genome.network/gene/GN006998", "geneNCBI_id": 4210, "geneSymbol": "MEFV", "hgvs": [ "NM_001198536.2:c.749G>A" ], "proteinEffect": { "hgvs": "NP_001185465.2:p.Arg250Gln", "hgvsWellDefined": "NP_001185465.2:p.Arg250Gln" }, "referenceSequence": "http://reg.genome.network/refseq/RS679391" } ], "type": "nucleotide" }