Canonical Allele Identifier: CA199447
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 189623
ClinVar RCV Id: RCV000170086 RCV003235088
dbSNP Id: rs786205012
MyVariant Identifiers: chr14:g.29237166C>G (hg19) chr14:g.28767960C>G (hg38)
PubMed: PMID:19578037
ERepo: CA199447/MONDO:0100040/033
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767960C>G , CM000676.2:g.28767960C>G GRCh38
NC_000014.8:g.29237166C>G , CM000676.1:g.29237166C>G GRCh37
NC_000014.7:g.28306917C>G NCBI36
NG_009367.1:g.5880C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.681C>G ENSP00000516406.1:p.Asn227Lys
ENST00000313071.7:c.681C>G MANE Select ENSP00000339004.3:p.Asn227Lys
ENST00000313071.6:c.681C>G ENSP00000339004.3:p.Asn227Lys
NM_005249.4:c.681C>G NP_005240.3:p.Asn227Lys
NM_005249.5:c.681C>G MANE Select NP_005240.3:p.Asn227Lys
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