Canonical Allele Identifier: CA486099081
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2119499
ClinVar RCV Id: RCV003054686
dbSNP Id: rs1333992644
MyVariant Identifiers: chr14:g.29237349C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768143C>G , CM000676.2:g.28768143C>G GRCh38
NC_000014.8:g.29237349C>G , CM000676.1:g.29237349C>G GRCh37
NC_000014.7:g.28307100C>G NCBI36
NG_009367.1:g.6063C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.864C>G ENSP00000516406.1:p.Arg288=
ENST00000313071.7:c.864C>G MANE Select ENSP00000339004.3:p.Arg288=
ENST00000313071.6:c.864C>G ENSP00000339004.3:p.Arg288=
NM_005249.4:c.864C>G NP_005240.3:p.Arg288=
NM_005249.5:c.864C>G MANE Select NP_005240.3:p.Arg288=
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