Canonical Allele Identifier: CA238814
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 193308
ClinVar RCV Id: RCV000187434 RCV000576291 RCV001507041 RCV001704246 RCV003947461 RCV002316989
dbSNP Id: rs794726920
ExAC: 14:29236679 CGCCGCCGCCGCCGCAGCAGCAGCA / C
gnomAD v2: 14-29236679-CGCCGCCGCCGCCGCAGCAGCAGCA-C
gnomAD v3: 14-28767473-CGCCGCCGCCGCCGCAGCAGCAGCA-C
gnomAD v4: 14-28767473-CGCCGCCGCCGCCGCAGCAGCAGCA-C
MyVariant Identifiers: chr14:g.29236694_29236717del (hg19) chr14:g.29236680_29236703del (hg19) chr14:g.28767488_28767511del (hg38) chr14:g.28767474_28767497del (hg38)
ERepo: CA238814/MONDO:0100040/016
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767488_28767511del , CM000676.2:g.28767488_28767511del GRCh38
NC_000014.8:g.29236694_29236717del , CM000676.1:g.29236694_29236717del GRCh37
NC_000014.7:g.28306445_28306468del NCBI36
NG_009367.1:g.5408_5431del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.209_232del ENSP00000516406.1:p.Gln70_Pro77del
ENST00000313071.7:c.209_232del MANE Select ENSP00000339004.3:p.Gln70_Pro77del
ENST00000313071.6:c.209_232del ENSP00000339004.3:p.Gln70_Pro77del
NM_005249.4:c.209_232del NP_005240.3:p.Gln70_Pro77del
NM_005249.5:c.209_232del MANE Select NP_005240.3:p.Gln70_Pro77del
Search 100 bp 5'
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