Canonical Allele Identifier: CA199433
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 189612
ClinVar RCV Id: RCV000170073 RCV000187475 RCV001507052
dbSNP Id: rs786205001
gnomAD v2: 14-29236734-GC-G
gnomAD v4: 14-28767528-GC-G
MyVariant Identifiers: chr14:g.29236741del (hg19) chr14:g.29236735del (hg19) chr14:g.28767535del (hg38) chr14:g.28767529del (hg38)
ERepo: CA199433/MONDO:0100040/016
PubMed: PMID:22739344
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767535del , CM000676.2:g.28767535del GRCh38
NC_000014.8:g.29236741del , CM000676.1:g.29236741del GRCh37
NC_000014.7:g.28306492del NCBI36
NG_009367.1:g.5455del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.256del ENSP00000516406.1:p.Gln86ArgfsTer?
ENST00000313071.7:c.256del MANE Select ENSP00000339004.3:p.Gln86ArgfsTer?
ENST00000313071.6:c.256del ENSP00000339004.3:p.Gln86ArgfsTer?
NM_005249.4:c.256del NP_005240.3:p.Gln86ArgfsTer?
NM_005249.5:c.256del MANE Select NP_005240.3:p.Gln86ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'