Canonical Allele Identifier: CA613324858
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 517669
ClinVar RCV Id: RCV000866884 RCV001719137 RCV002311961
dbSNP Id: rs1466028633
gnomAD v2: 14-29236682-CGCCGCCGCCGCAGCAGCAGCA-C
gnomAD v3: 14-28767476-CGCCGCCGCCGCAGCAGCAGCA-C
gnomAD v4: 14-28767476-CGCCGCCGCCGCAGCAGCAGCA-C
MyVariant Identifiers: chr14:g.29236694_29236714del (hg19) chr14:g.29236683_29236703del (hg19) chr14:g.28767488_28767508del (hg38) chr14:g.28767477_28767497del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767488_28767508del , CM000676.2:g.28767488_28767508del GRCh38
NC_000014.8:g.29236694_29236714del , CM000676.1:g.29236694_29236714del GRCh37
NC_000014.7:g.28306445_28306465del NCBI36
NG_009367.1:g.5408_5428del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.209_229del ENSP00000516406.1:p.Gln70_Pro76del
ENST00000313071.7:c.209_229del MANE Select ENSP00000339004.3:p.Gln70_Pro76del
ENST00000313071.6:c.209_229del ENSP00000339004.3:p.Gln70_Pro76del
NM_005249.4:c.209_229del NP_005240.3:p.Gln70_Pro76del
NM_005249.5:c.209_229del MANE Select NP_005240.3:p.Gln70_Pro76del
Search 100 bp 5'
Search 100 bp 3'