Canonical Allele Identifier: CA258396611
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1224762
ClinVar RCV Id: RCV001608220
dbSNP Id: rs68024132
gnomAD v2: 14-29238047-GC-G
gnomAD v3: 14-28768841-GC-G
gnomAD v4: 14-28768841-GC-G
COSMIC: COSN20111156 COSN20111157
MyVariant Identifiers: chr14:g.29238048del (hg19) chr14:g.28768842del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768849del , CM000676.2:g.28768849del GRCh38
NC_000014.8:g.29238055del , CM000676.1:g.29238055del GRCh37
NC_000014.7:g.28307806del NCBI36
NG_009367.1:g.6769del

Transcript Alleles

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