Canonical Allele Identifier: CA1139663432
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 986868
ClinVar RCV Id: RCV001268011
dbSNP Id: rs1881820386

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768447dup , CM000676.2:g.28768447dup GRCh38
NC_000014.8:g.29237653dup , CM000676.1:g.29237653dup GRCh37
NC_000014.7:g.28307404dup NCBI36
NG_009367.1:g.6367dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.1168dup ENSP00000516406.1:p.Cys390LeufsTer?
ENST00000313071.7:c.1168dup MANE Select ENSP00000339004.3:p.Cys390LeufsTer?
ENST00000313071.6:c.1168dup ENSP00000339004.3:p.Cys390LeufsTer?
NM_005249.4:c.1168dup NP_005240.3:p.Cys390LeufsTer?
NM_005249.5:c.1168dup MANE Select NP_005240.3:p.Cys390LeufsTer?