Canonical Allele Identifier: CA1139663423
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 873437
ClinVar RCV Id: RCV001095652
dbSNP Id: rs1881779084
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767435_28767439del , CM000676.2:g.28767435_28767439del GRCh38
NC_000014.8:g.29236641_29236645del , CM000676.1:g.29236641_29236645del GRCh37
NC_000014.7:g.28306392_28306396del NCBI36
NG_009367.1:g.5355_5359del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.156_160del ENSP00000516406.1:p.His52GlnfsTer?
ENST00000313071.7:c.156_160del MANE Select ENSP00000339004.3:p.His52GlnfsTer?
ENST00000313071.6:c.156_160del ENSP00000339004.3:p.His52GlnfsTer?
NM_005249.4:c.156_160del NP_005240.3:p.His52GlnfsTer?
NM_005249.5:c.156_160del MANE Select NP_005240.3:p.His52GlnfsTer?
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