Canonical Allele Identifier: CA704761648
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1085769
ClinVar RCV Id: RCV001403288
dbSNP Id: rs398124201
gnomAD v4: 14-28767485-CGCAGCA-C
MyVariant Identifiers: chr14:g.29236692_29236697del (hg19) chr14:g.28767486_28767491del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767494_28767499del , CM000676.2:g.28767494_28767499del GRCh38
NC_000014.8:g.29236700_29236705del , CM000676.1:g.29236700_29236705del GRCh37
NC_000014.7:g.28306451_28306456del NCBI36
NG_009367.1:g.5414_5419del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.215_220del ENSP00000516406.1:p.Gln72_Gln73del
ENST00000313071.7:c.215_220del MANE Select ENSP00000339004.3:p.Gln72_Gln73del
ENST00000313071.6:c.215_220del ENSP00000339004.3:p.Gln72_Gln73del
NM_005249.4:c.215_220del NP_005240.3:p.Gln72_Gln73del
NM_005249.5:c.215_220del MANE Select NP_005240.3:p.Gln72_Gln73del
Search 100 bp 5'
Search 100 bp 3'