Canonical Allele Identifier: CA16042885
Gene: FOXG1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372562
ClinVar RCV Id: RCV000413843
dbSNP Id: rs1057517859

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767790G>T , CM000676.2:g.28767790G>T GRCh38
NC_000014.8:g.29236996G>T , CM000676.1:g.29236996G>T GRCh37
NC_000014.7:g.28306747G>T NCBI36
NG_009367.1:g.5710G>T

Transcript Alleles

HGVS Amino-acid change
NM_005249.4:c.511G>T VV NP_005240.3:p.Glu171Ter
ENST00000313071.6:c.511G>T ENSP00000339004.3:p.Glu171Ter