Canonical Allele Identifier: CA389474876
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2834592
ClinVar RCV Id: RCV003630617
gnomAD v4: 14-28767608-C-A
MyVariant Identifiers: chr14:g.29236814C>A (hg19) chr14:g.28767608C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767608C>A , CM000676.2:g.28767608C>A GRCh38
NC_000014.8:g.29236814C>A , CM000676.1:g.29236814C>A GRCh37
NC_000014.7:g.28306565C>A NCBI36
NG_009367.1:g.5528C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.329C>A ENSP00000516406.1:p.Pro110Gln
ENST00000313071.7:c.329C>A MANE Select ENSP00000339004.3:p.Pro110Gln
ENST00000313071.6:c.329C>A ENSP00000339004.3:p.Pro110Gln
NM_005249.4:c.329C>A NP_005240.3:p.Pro110Gln
NM_005249.5:c.329C>A MANE Select NP_005240.3:p.Pro110Gln
Search 100 bp 5'
Search 100 bp 3'