Canonical Allele Identifier: CA16042887
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373076
ClinVar RCV Id: RCV000414221
dbSNP Id: rs1057518196

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768439_28768440delinsGTC , CM000676.2:g.28768439_28768440delinsGTC GRCh38
NC_000014.8:g.29237645_29237646delinsGTC , CM000676.1:g.29237645_29237646delinsGTC GRCh37
NC_000014.7:g.28307396_28307397delinsGTC NCBI36
NG_009367.1:g.6359_6360delinsGTC

Transcript Alleles

HGVS Amino-acid change
ENST00000706482.1:c.1160_1161delinsGTC ENSP00000516406.1:p.Ser387CysfsTer?
ENST00000313071.7:c.1160_1161delinsGTC MANE Select ENSP00000339004.3:p.Ser387CysfsTer?
ENST00000313071.6:c.1160_1161delinsGTC ENSP00000339004.3:p.Ser387CysfsTer?
NM_005249.4:c.1160_1161delinsGTC NP_005240.3:p.Ser387CysfsTer?
NM_005249.5:c.1160_1161delinsGTC MANE Select NP_005240.3:p.Ser387CysfsTer?