Canonical Allele Identifier: CA16619862
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418863
ClinVar RCV Id: RCV000485796
dbSNP Id: rs1064793481

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767982del , CM000676.2:g.28767982del GRCh38
NC_000014.8:g.29237188del , CM000676.1:g.29237188del GRCh37
NC_000014.7:g.28306939del NCBI36
NG_009367.1:g.5902del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.703del ENSP00000516406.1:p.Leu235SerfsTer6
ENST00000313071.7:c.703del MANE Select ENSP00000339004.3:p.Leu235SerfsTer6
ENST00000313071.6:c.703del ENSP00000339004.3:p.Leu235SerfsTer6
NM_005249.4:c.703del NP_005240.3:p.Leu235SerfsTer6
NM_005249.5:c.703del MANE Select NP_005240.3:p.Leu235SerfsTer6