Canonical Allele Identifier: CA258396555
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1790126
ClinVar RCV Id: RCV002457701
dbSNP Id: rs1054291031
gnomAD v3: 14-28767514-C-A
gnomAD v4: 14-28767514-C-A
MyVariant Identifiers: chr14:g.29236720C>A (hg19) chr14:g.28767514C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767514C>A , CM000676.2:g.28767514C>A GRCh38
NC_000014.8:g.29236720C>A , CM000676.1:g.29236720C>A GRCh37
NC_000014.7:g.28306471C>A NCBI36
NG_009367.1:g.5434C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.235C>A ENSP00000516406.1:p.Pro79Thr
ENST00000313071.7:c.235C>A MANE Select ENSP00000339004.3:p.Pro79Thr
ENST00000313071.6:c.235C>A ENSP00000339004.3:p.Pro79Thr
NM_005249.4:c.235C>A NP_005240.3:p.Pro79Thr
NM_005249.5:c.235C>A MANE Select NP_005240.3:p.Pro79Thr
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