Canonical Allele Identifier: CA389474747
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 872518
ClinVar RCV Id: RCV001093030 RCV001229772
dbSNP Id: rs1594383160
gnomAD v4: 14-28767548-C-T
MyVariant Identifiers: chr14:g.29236754C>T (hg19) chr14:g.28767548C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767548C>T , CM000676.2:g.28767548C>T GRCh38
NC_000014.8:g.29236754C>T , CM000676.1:g.29236754C>T GRCh37
NC_000014.7:g.28306505C>T NCBI36
NG_009367.1:g.5468C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.269C>T ENSP00000516406.1:p.Ala90Val
ENST00000313071.7:c.269C>T MANE Select ENSP00000339004.3:p.Ala90Val
ENST00000313071.6:c.269C>T ENSP00000339004.3:p.Ala90Val
NM_005249.4:c.269C>T NP_005240.3:p.Ala90Val
NM_005249.5:c.269C>T MANE Select NP_005240.3:p.Ala90Val
Search 100 bp 5'
Search 100 bp 3'