Canonical Allele Identifier: CA915948871
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 817337
ClinVar RCV Id: RCV001008457
dbSNP Id: rs1594383151

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767544_28767545dup , CM000676.2:g.28767544_28767545dup GRCh38
NC_000014.8:g.29236750_29236751dup , CM000676.1:g.29236750_29236751dup GRCh37
NC_000014.7:g.28306501_28306502dup NCBI36
NG_009367.1:g.5464_5465dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.265_266dup ENSP00000516406.1:p.Ala92ArgfsTer?
ENST00000313071.7:c.265_266dup MANE Select ENSP00000339004.3:p.Ala92ArgfsTer?
ENST00000313071.6:c.265_266dup ENSP00000339004.3:p.Ala92ArgfsTer?
NM_005249.4:c.265_266dup NP_005240.3:p.Ala92ArgfsTer?
NM_005249.5:c.265_266dup MANE Select NP_005240.3:p.Ala92ArgfsTer?