Canonical Allele Identifier: CA16621657
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 425040
dbSNP Id: rs1064797186

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767964A>C , CM000676.2:g.28767964A>C GRCh38
NC_000014.8:g.29237170A>C , CM000676.1:g.29237170A>C GRCh37
NC_000014.7:g.28306921A>C NCBI36
NG_009367.1:g.5884A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.685A>C ENSP00000516406.1:p.Ile229Leu
ENST00000313071.7:c.685A>C MANE Select ENSP00000339004.3:p.Ile229Leu
ENST00000313071.6:c.685A>C ENSP00000339004.3:p.Ile229Leu
NM_005249.4:c.685A>C NP_005240.3:p.Ile229Leu
NM_005249.5:c.685A>C MANE Select NP_005240.3:p.Ile229Leu