Canonical Allele Identifier: CA314640
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205502
ClinVar RCV Id: RCV000187478
dbSNP Id: rs796052476

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767662dup , CM000676.2:g.28767662dup GRCh38
NC_000014.8:g.29236868dup , CM000676.1:g.29236868dup GRCh37
NC_000014.7:g.28306619dup NCBI36
NG_009367.1:g.5582dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.383dup ENSP00000516406.1:p.Glu129ArgfsTer?
ENST00000313071.7:c.383dup MANE Select ENSP00000339004.3:p.Glu129ArgfsTer?
ENST00000313071.6:c.383dup ENSP00000339004.3:p.Glu129ArgfsTer?
NM_005249.4:c.383dup NP_005240.3:p.Glu129ArgfsTer?
NM_005249.5:c.383dup MANE Select NP_005240.3:p.Glu129ArgfsTer?