Canonical Allele Identifier: CA1139663425
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 952981
ClinVar RCV Id: RCV001225207
dbSNP Id: rs1881793162
gnomAD v4: 14-28767680-CG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767685del , CM000676.2:g.28767685del GRCh38
NC_000014.8:g.29236891del , CM000676.1:g.29236891del GRCh37
NC_000014.7:g.28306642del NCBI36
NG_009367.1:g.5605del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.406del ENSP00000516406.1:p.Glu136SerfsTer?
ENST00000313071.7:c.406del MANE Select ENSP00000339004.3:p.Glu136SerfsTer?
ENST00000313071.6:c.406del ENSP00000339004.3:p.Glu136SerfsTer?
NM_005249.4:c.406del NP_005240.3:p.Glu136SerfsTer?
NM_005249.5:c.406del MANE Select NP_005240.3:p.Glu136SerfsTer?
Search 100 bp 5'
Search 100 bp 3'