Canonical Allele Identifier: CA238812
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 193307
ClinVar RCV Id: RCV000173368
dbSNP Id: rs794726919
gnomAD v4: 14-28767546-C-T
MyVariant Identifiers: chr14:g.29236752C>T (hg19) chr14:g.28767546C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767546C>T , CM000676.2:g.28767546C>T GRCh38
NC_000014.8:g.29236752C>T , CM000676.1:g.29236752C>T GRCh37
NC_000014.7:g.28306503C>T NCBI36
NG_009367.1:g.5466C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.267C>T ENSP00000516406.1:p.Gly89=
ENST00000313071.7:c.267C>T MANE Select ENSP00000339004.3:p.Gly89=
ENST00000313071.6:c.267C>T ENSP00000339004.3:p.Gly89=
NM_005249.4:c.267C>T NP_005240.3:p.Gly89=
NM_005249.5:c.267C>T MANE Select NP_005240.3:p.Gly89=
Search 100 bp 5'
Search 100 bp 3'