{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA4231195", "communityStandardTitle": [ "NM_000168.6(GLI3):c.434G>A (p.Arg145His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1561181[alleleid]", "alleleId": 1561181, "preferredName": "NM_000168.6(GLI3):c.434G>A (p.Arg145His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1622334", "RCV": [ "RCV002106153", "RCV003053421" ], "variationId": 1622334 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/7-42116390-C-T", "id": "7-42116390-C-T", "variant": "7:42116390 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.42116390C>T?assembly=hg19", "id": "chr7:g.42116390C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr7:g.42076791C>T?assembly=hg38", "id": "chr7:g.42076791C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/768622457", "rs": 768622457 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-42116390-C-T?dataset=gnomad_r2_1", "id": "7-42116390-C-T", "variant": "7:42116390 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/7-42076791-C-T?dataset=gnomad_r4", "id": "7-42076791-C-T", "variant": "7:42076791 C / T" } ] }, "genomicAlleles": [ { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 42076791, "referenceAllele": "C", "start": 42076790 } ], "hgvs": [ "NC_000007.14:g.42076791C>T", "CM000669.2:g.42076791C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000055" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 42116390, "referenceAllele": "C", "start": 42116389 } ], "hgvs": [ "NC_000007.13:g.42116390C>T", "CM000669.1:g.42116390C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000031" }, { "chromosome": "7", "coordinates": [ { "allele": "T", "end": 42082915, "referenceAllele": "C", "start": 42082914 } ], "hgvs": [ "NC_000007.12:g.42082915C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000007" }, { "coordinates": [ { "allele": "A", "end": 165229, "referenceAllele": "G", "start": 165228 } ], "hgvs": [ "NG_008434.1:g.165229G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001097" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 715, "referenceAllele": "G", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "ENST00000395925.8:c.434G>A" ], "proteinEffect": { "hgvs": "ENSP00000379258.3:p.Arg145His", "hgvsWellDefined": "ENSP00000379258.3:p.Arg145His" }, "referenceSequence": "http://reg.genome.network/refseq/RS753460", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395925.8:c.434G>A" }, "RefSeq": { "hgvs": "NM_000168.6:c.434G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379258.3:p.Arg145His" }, "RefSeq": { "hgvs": "NP_000159.3:p.Arg145His" } } } }, { "coordinates": [ { "allele": "A", "end": 388, "referenceAllele": "G", "start": 387 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "ENST00000677288.1:c.257G>A" ], "proteinEffect": { "hgvs": "ENSP00000503986.1:p.Arg86His", "hgvsWellDefined": "ENSP00000503986.1:p.Arg86His" }, "referenceSequence": "http://reg.genome.network/refseq/RS776951" }, { "coordinates": [ { "allele": "A", "end": 533, "referenceAllele": "G", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "ENST00000677605.1:c.434G>A" ], "proteinEffect": { "hgvs": "ENSP00000503743.1:p.Arg145His", "hgvsWellDefined": "ENSP00000503743.1:p.Arg145His" }, "referenceSequence": "http://reg.genome.network/refseq/RS777263" }, { "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "G", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "ENST00000678429.1:c.434G>A" ], "proteinEffect": { "hgvs": "ENSP00000502957.1:p.Arg145His", "hgvsWellDefined": "ENSP00000502957.1:p.Arg145His" }, "referenceSequence": "http://reg.genome.network/refseq/RS778075" }, { "coordinates": [ { "allele": "A", "end": 519, "referenceAllele": "G", "start": 518 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "ENST00000395925.7:c.434G>A" ], "proteinEffect": { "hgvs": "ENSP00000379258.3:p.Arg145His", "hgvsWellDefined": "ENSP00000379258.3:p.Arg145His" }, "referenceSequence": "http://reg.genome.network/refseq/RS276992" }, { "coordinates": [ { "allele": "A", "end": 547, "referenceAllele": "G", "start": 546 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "ENST00000448703.5:c.434G>A" ], "proteinEffect": { "hgvs": "ENSP00000406135.1:p.Arg145His", "hgvsWellDefined": "ENSP00000406135.1:p.Arg145His" }, "referenceSequence": "http://reg.genome.network/refseq/RS299848" }, { "coordinates": [ { "allele": "A", "end": 411, "referenceAllele": "G", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "ENST00000479210.1:n.411G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS319645" }, { "@id": "http://reg.genome.network/allele/PA2573163288", "coordinates": [ { "allele": "A", "end": 525, "referenceAllele": "G", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "NM_000168.5:c.434G>A" ], "proteinEffect": { "hgvs": "NP_000159.3:p.Arg145His", "hgvsWellDefined": "NP_000159.3:p.Arg145His" }, "referenceSequence": "http://reg.genome.network/refseq/RS006230" }, { "coordinates": [ { "allele": "A", "end": 563, "referenceAllele": "G", "start": 562 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "XM_005249703.1:c.434G>A" ], "proteinEffect": { "hgvs": "XP_005249760.1:p.Arg145His", "hgvsWellDefined": "XP_005249760.1:p.Arg145His" }, "referenceSequence": "http://reg.genome.network/refseq/RS058919" }, { "coordinates": [ { "allele": "A", "end": 752, "referenceAllele": "G", "start": 751 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "XM_005249704.2:c.434G>A" ], "proteinEffect": { "hgvs": "XP_005249761.1:p.Arg145His", "hgvsWellDefined": "XP_005249761.1:p.Arg145His" }, "referenceSequence": "http://reg.genome.network/refseq/RS058920" }, { "coordinates": [ { "allele": "A", "end": 542, "referenceAllele": "G", "start": 541 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "XM_011515272.1:c.434G>A" ], "proteinEffect": { "hgvs": "XP_011513574.1:p.Arg145His", "hgvsWellDefined": "XP_011513574.1:p.Arg145His" }, "referenceSequence": "http://reg.genome.network/refseq/RS082492" }, { "coordinates": [ { "allele": "A", "end": 595, "referenceAllele": "G", "start": 594 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "XM_011515273.1:c.434G>A" ], "proteinEffect": { "hgvs": "XP_011513575.1:p.Arg145His", "hgvsWellDefined": "XP_011513575.1:p.Arg145His" }, "referenceSequence": "http://reg.genome.network/refseq/RS082493" }, { "coordinates": [ { "allele": "A", "end": 411, "referenceAllele": "G", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "XM_011515274.1:c.257G>A" ], "proteinEffect": { "hgvs": "XP_011513576.1:p.Arg86His", "hgvsWellDefined": "XP_011513576.1:p.Arg86His" }, "referenceSequence": "http://reg.genome.network/refseq/RS082494" }, { "coordinates": [ { "allele": "A", "end": 3149, "referenceAllele": "G", "start": 3148 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "XM_011515274.2:c.257G>A" ], "proteinEffect": { "hgvs": "XP_011513576.1:p.Arg86His", "hgvsWellDefined": "XP_011513576.1:p.Arg86His" }, "referenceSequence": "http://reg.genome.network/refseq/RS543684" }, { "coordinates": [ { "allele": "A", "end": 3182, "referenceAllele": "G", "start": 3181 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "XM_017011997.1:c.431G>A" ], "proteinEffect": { "hgvs": "XP_016867486.1:p.Arg144His", "hgvsWellDefined": "XP_016867486.1:p.Arg144His" }, "referenceSequence": "http://reg.genome.network/refseq/RS565710" }, { "@id": "http://reg.genome.network/allele/PA2573163288", "coordinates": [ { "allele": "A", "end": 715, "referenceAllele": "G", "start": 714 } ], "gene": "http://reg.genome.network/gene/GN004319", "geneNCBI_id": 2737, "geneSymbol": "GLI3", "hgvs": [ "NM_000168.6:c.434G>A" ], "proteinEffect": { "hgvs": "NP_000159.3:p.Arg145His", "hgvsWellDefined": "NP_000159.3:p.Arg145His" }, "referenceSequence": "http://reg.genome.network/refseq/RS662338", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395925.8:c.434G>A" }, "RefSeq": { "hgvs": "NM_000168.6:c.434G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000379258.3:p.Arg145His" }, "RefSeq": { "hgvs": "NP_000159.3:p.Arg145His" } } } } ], "type": "nucleotide" }