Canonical Allele Identifier: CA2573053897
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1325759
ClinVar RCV Id: RCV001785296
dbSNP Id: rs2138661448
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768014del , CM000676.2:g.28768014del GRCh38
NC_000014.8:g.29237220del , CM000676.1:g.29237220del GRCh37
NC_000014.7:g.28306971del NCBI36
NG_009367.1:g.5934del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.735del ENSP00000516406.1:p.Tyr246ThrfsTer?
ENST00000313071.7:c.735del MANE Select ENSP00000339004.3:p.Tyr246ThrfsTer?
ENST00000313071.6:c.735del ENSP00000339004.3:p.Tyr246ThrfsTer?
NM_005249.4:c.735del NP_005240.3:p.Tyr246ThrfsTer?
NM_005249.5:c.735del MANE Select NP_005240.3:p.Tyr246ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'