Canonical Allele Identifier: CA389474972
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3096392
ClinVar RCV Id: RCV004392262

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767658A>G , CM000676.2:g.28767658A>G GRCh38
NC_000014.8:g.29236864A>G , CM000676.1:g.29236864A>G GRCh37
NC_000014.7:g.28306615A>G NCBI36
NG_009367.1:g.5578A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.379A>G ENSP00000516406.1:p.Lys127Glu
ENST00000313071.7:c.379A>G MANE Select ENSP00000339004.3:p.Lys127Glu
ENST00000313071.6:c.379A>G ENSP00000339004.3:p.Lys127Glu
NM_005249.4:c.379A>G NP_005240.3:p.Lys127Glu
NM_005249.5:c.379A>G MANE Select NP_005240.3:p.Lys127Glu