Canonical Allele Identifier: CA314564
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205462
ClinVar RCV Id: RCV000187427 RCV000554007 RCV002399697
dbSNP Id: rs587783630
ExAC: 14:29236623 GCACCACCAC / G
gnomAD v2: 14-29236623-GCACCACCAC-G
gnomAD v3: 14-28767417-GCACCACCAC-G
gnomAD v4: 14-28767417-GCACCACCAC-G
MyVariant Identifiers: chr14:g.29236638_29236646del (hg19) chr14:g.29236627_29236635del (hg19) chr14:g.29236624_29236632del (hg19) chr14:g.28767432_28767440del (hg38) chr14:g.28767421_28767429del (hg38) chr14:g.28767418_28767426del (hg38)
ERepo: CA314564/MONDO:0100040/035
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767432_28767440del , CM000676.2:g.28767432_28767440del GRCh38
NC_000014.8:g.29236638_29236646del , CM000676.1:g.29236638_29236646del GRCh37
NC_000014.7:g.28306389_28306397del NCBI36
NG_009367.1:g.5352_5360del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.153_161del ENSP00000516406.1:p.His52_His54del
ENST00000313071.7:c.153_161del MANE Select ENSP00000339004.3:p.His52_His54del
ENST00000313071.6:c.153_161del ENSP00000339004.3:p.His52_His54del
NM_005249.4:c.153_161del NP_005240.3:p.His52_His54del
NM_005249.5:c.153_161del MANE Select NP_005240.3:p.His52_His54del
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