Canonical Allele Identifier: CA172182
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 158594
ClinVar RCV Id: RCV000145988 RCV000187476
dbSNP Id: rs587783636
gnomAD v2: 14-29236778-GC-G
gnomAD v4: 14-28767572-GC-G
MyVariant Identifiers: chr14:g.29236783del (hg19) chr14:g.29236779del (hg19) chr14:g.28767577del (hg38) chr14:g.28767573del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767577del , CM000676.2:g.28767577del GRCh38
NC_000014.8:g.29236783del , CM000676.1:g.29236783del GRCh37
NC_000014.7:g.28306534del NCBI36
NG_009367.1:g.5497del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.298del ENSP00000516406.1:p.Gln100SerfsTer?
ENST00000313071.7:c.298del MANE Select ENSP00000339004.3:p.Gln100SerfsTer?
ENST00000313071.6:c.298del ENSP00000339004.3:p.Gln100SerfsTer?
NM_005249.4:c.298del NP_005240.3:p.Gln100SerfsTer?
NM_005249.5:c.298del MANE Select NP_005240.3:p.Gln100SerfsTer?
Search 100 bp 5'
Search 100 bp 3'