Canonical Allele Identifier: CA314657
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205512
ClinVar RCV Id: RCV000187489
dbSNP Id: rs796052486
MyVariant Identifiers: chr14:g.29237887_29237890del (hg19) chr14:g.28768681_28768684del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768681_28768684del , CM000676.2:g.28768681_28768684del GRCh38
NC_000014.8:g.29237887_29237890del , CM000676.1:g.29237887_29237890del GRCh37
NC_000014.7:g.28307638_28307641del NCBI36
NG_009367.1:g.6601_6604del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.1402_1405del ENSP00000516406.1:p.Ser468GlyfsTer19
ENST00000313071.7:c.1402_1405del MANE Select ENSP00000339004.3:p.Ser468GlyfsTer19
ENST00000313071.6:c.1402_1405del ENSP00000339004.3:p.Ser468GlyfsTer19
NM_005249.4:c.1402_1405del NP_005240.3:p.Ser468GlyfsTer19
NM_005249.5:c.1402_1405del MANE Select NP_005240.3:p.Ser468GlyfsTer19
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