Canonical Allele Identifier: CA389474909
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2497868
ClinVar RCV Id: RCV003218934

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767626T>G , CM000676.2:g.28767626T>G GRCh38
NC_000014.8:g.29236832T>G , CM000676.1:g.29236832T>G GRCh37
NC_000014.7:g.28306583T>G NCBI36
NG_009367.1:g.5546T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.347T>G ENSP00000516406.1:p.Leu116Arg
ENST00000313071.7:c.347T>G MANE Select ENSP00000339004.3:p.Leu116Arg
ENST00000313071.6:c.347T>G ENSP00000339004.3:p.Leu116Arg
NM_005249.4:c.347T>G NP_005240.3:p.Leu116Arg
NM_005249.5:c.347T>G MANE Select NP_005240.3:p.Leu116Arg