Canonical Allele Identifier: CA10654909
Gene: FOXG1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 369885
ClinVar RCV Id: RCV000408825
dbSNP Id: rs1057516138

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767833G>T , CM000676.2:g.28767833G>T GRCh38
NC_000014.8:g.29237039G>T , CM000676.1:g.29237039G>T GRCh37
NC_000014.7:g.28306790G>T NCBI36
NG_009367.1:g.5753G>T

Transcript Alleles

HGVS Amino-acid change
NM_005249.4:c.554G>T VV NP_005240.3:p.Ser185Ile
ENST00000313071.6:c.554G>T ENSP00000339004.3:p.Ser185Ile