Canonical Allele Identifier: CA389474895
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2503397
ClinVar RCV Id: RCV003230231

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767619G>A , CM000676.2:g.28767619G>A GRCh38
NC_000014.8:g.29236825G>A , CM000676.1:g.29236825G>A GRCh37
NC_000014.7:g.28306576G>A NCBI36
NG_009367.1:g.5539G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.340G>A ENSP00000516406.1:p.Ala114Thr
ENST00000313071.7:c.340G>A MANE Select ENSP00000339004.3:p.Ala114Thr
ENST00000313071.6:c.340G>A ENSP00000339004.3:p.Ala114Thr
NM_005249.4:c.340G>A NP_005240.3:p.Ala114Thr
NM_005249.5:c.340G>A MANE Select NP_005240.3:p.Ala114Thr