Canonical Allele Identifier: CA172179
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 158592
ClinVar RCV Id: RCV000145986 RCV000187435 RCV001537815 RCV003235067 RCV002316931
dbSNP Id: rs587783634
ExAC: 14:29236677 ACCGCCGCCGCCGCCGCAGCAGCAGCAG / A
gnomAD v2: 14-29236677-ACCGCCGCCGCCGCCGCAGCAGCAGCAG-A
gnomAD v3: 14-28767471-ACCGCCGCCGCCGCCGCAGCAGCAGCAG-A
gnomAD v4: 14-28767471-ACCGCCGCCGCCGCCGCAGCAGCAGCAG-A
MyVariant Identifiers: chr14:g.29236694_29236720del (hg19) chr14:g.29236681_29236707del (hg19) chr14:g.29236678_29236704del (hg19) chr14:g.28767488_28767514del (hg38) chr14:g.28767472_28767498del (hg38)
ERepo: CA172179/MONDO:0100040/033
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767488_28767514del , CM000676.2:g.28767488_28767514del GRCh38
NC_000014.8:g.29236694_29236720del , CM000676.1:g.29236694_29236720del GRCh37
NC_000014.7:g.28306445_28306471del NCBI36
NG_009367.1:g.5408_5434del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.209_235del ENSP00000516406.1:p.Gln70_Pro78del
ENST00000313071.7:c.209_235del MANE Select ENSP00000339004.3:p.Gln70_Pro78del
ENST00000313071.6:c.209_235del ENSP00000339004.3:p.Gln70_Pro78del
NM_005249.4:c.209_235del NP_005240.3:p.Gln70_Pro78del
NM_005249.5:c.209_235del MANE Select NP_005240.3:p.Gln70_Pro78del
Search 100 bp 5'
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