Canonical Allele Identifier: CA486098762
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2746923
ClinVar RCV Id: RCV003514869
MyVariant Identifiers: chr14:g.29237919A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768713A>G , CM000676.2:g.28768713A>G GRCh38
NC_000014.8:g.29237919A>G , CM000676.1:g.29237919A>G GRCh37
NC_000014.7:g.28307670A>G NCBI36
NG_009367.1:g.6633A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.1434A>G ENSP00000516406.1:p.Gln478=
ENST00000313071.7:c.1434A>G MANE Select ENSP00000339004.3:p.Gln478=
ENST00000313071.6:c.1434A>G ENSP00000339004.3:p.Gln478=
NM_005249.4:c.1434A>G NP_005240.3:p.Gln478=
NM_005249.5:c.1434A>G MANE Select NP_005240.3:p.Gln478=