Canonical Allele Identifier: CA2697553889
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2756302
ClinVar RCV Id: RCV003515129
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768691_28768706del , CM000676.2:g.28768691_28768706del GRCh38
NC_000014.8:g.29237897_29237912del , CM000676.1:g.29237897_29237912del GRCh37
NC_000014.7:g.28307648_28307663del NCBI36
NG_009367.1:g.6611_6626del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.1412_1427del ENSP00000516406.1:p.Leu471HisfsTer12
ENST00000313071.7:c.1412_1427del MANE Select ENSP00000339004.3:p.Leu471HisfsTer12
ENST00000313071.6:c.1412_1427del ENSP00000339004.3:p.Leu471HisfsTer12
NM_005249.4:c.1412_1427del NP_005240.3:p.Leu471HisfsTer12
NM_005249.5:c.1412_1427del MANE Select NP_005240.3:p.Leu471HisfsTer12
Search 100 bp 5'
Search 100 bp 3'