Canonical Allele Identifier: CA314572
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205466
ClinVar RCV Id: RCV000187431 RCV001481248
dbSNP Id: rs796052450
gnomAD v4: 14-28767450-CCCGCCGCCGCCCGCCCCGCAACCGCCG-C
MyVariant Identifiers: chr14:g.29236667_29236693del (hg19) chr14:g.28767461_28767487del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767461_28767487del , CM000676.2:g.28767461_28767487del GRCh38
NC_000014.8:g.29236667_29236693del , CM000676.1:g.29236667_29236693del GRCh37
NC_000014.7:g.28306418_28306444del NCBI36
NG_009367.1:g.5381_5407del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.182_208del ENSP00000516406.1:p.Pro61_Pro69del
ENST00000313071.7:c.182_208del MANE Select ENSP00000339004.3:p.Pro61_Pro69del
ENST00000313071.6:c.182_208del ENSP00000339004.3:p.Pro61_Pro69del
NM_005249.4:c.182_208del NP_005240.3:p.Pro61_Pro69del
NM_005249.5:c.182_208del MANE Select NP_005240.3:p.Pro61_Pro69del
Search 100 bp 5'
Search 100 bp 3'