Canonical Allele Identifier: CA613324875
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 471470
ClinVar RCV Id: RCV000541926 RCV001267590 RCV001288608
dbSNP Id: rs1452295073
gnomAD v2: 14-29236985-AG-A
gnomAD v4: 14-28767779-AG-A
COSMIC: COSM5362355
MyVariant Identifiers: chr14:g.29236991del (hg19) chr14:g.29236986del (hg19) chr14:g.28767785del (hg38) chr14:g.28767780del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767785del , CM000676.2:g.28767785del GRCh38
NC_000014.8:g.29236991del , CM000676.1:g.29236991del GRCh37
NC_000014.7:g.28306742del NCBI36
NG_009367.1:g.5705del

Transcript Alleles

HGVS Amino-acid change
ENST00000706482.1:c.506del ENSP00000516406.1:p.Gly169AlafsTer23
ENST00000313071.7:c.506del MANE Select ENSP00000339004.3:p.Gly169AlafsTer23
ENST00000313071.6:c.506del ENSP00000339004.3:p.Gly169AlafsTer23
NM_005249.4:c.506del NP_005240.3:p.Gly169AlafsTer23
NM_005249.5:c.506del MANE Select NP_005240.3:p.Gly169AlafsTer23
Search 100 bp 5'
Search 100 bp 3'