Canonical Allele Identifier: CA2499222615
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1077133
ClinVar RCV Id: RCV001391269
dbSNP Id: rs2138661361
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767965_28767966delinsAA , CM000676.2:g.28767965_28767966delinsAA GRCh38
NC_000014.8:g.29237171_29237172delinsAA , CM000676.1:g.29237171_29237172delinsAA GRCh37
NC_000014.7:g.28306922_28306923delinsAA NCBI36
NG_009367.1:g.5885_5886delinsAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.686_687delinsAA ENSP00000516406.1:p.Ile229Lys
ENST00000313071.7:c.686_687delinsAA MANE Select ENSP00000339004.3:p.Ile229Lys
ENST00000313071.6:c.686_687delinsAA ENSP00000339004.3:p.Ile229Lys
NM_005249.4:c.686_687delinsAA NP_005240.3:p.Ile229Lys
NM_005249.5:c.686_687delinsAA MANE Select NP_005240.3:p.Ile229Lys
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