Canonical Allele Identifier: CA204685
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205485
ClinVar RCV Id: RCV000187456 RCV000190704 RCV001507060 RCV001781545
dbSNP Id: rs796052462
MyVariant Identifiers: chr14:g.29237046C>A (hg19) chr14:g.28767840C>A (hg38)
PubMed: PMID:26795593
ERepo: CA204685/MONDO:0100040/016
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767840C>A , CM000676.2:g.28767840C>A GRCh38
NC_000014.8:g.29237046C>A , CM000676.1:g.29237046C>A GRCh37
NC_000014.7:g.28306797C>A NCBI36
NG_009367.1:g.5760C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.561C>A ENSP00000516406.1:p.Asn187Lys
ENST00000313071.7:c.561C>A MANE Select ENSP00000339004.3:p.Asn187Lys
ENST00000313071.6:c.561C>A ENSP00000339004.3:p.Asn187Lys
NM_005249.4:c.561C>A NP_005240.3:p.Asn187Lys
NM_005249.5:c.561C>A MANE Select NP_005240.3:p.Asn187Lys
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