Canonical Allele Identifier: CA389477130
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 579156
ClinVar RCV Id: RCV001401508
dbSNP Id: rs1566445990

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768655C>G , CM000676.2:g.28768655C>G GRCh38
NC_000014.8:g.29237861C>G , CM000676.1:g.29237861C>G GRCh37
NC_000014.7:g.28307612C>G NCBI36
NG_009367.1:g.6575C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.1376C>G ENSP00000516406.1:p.Ser459Cys
ENST00000313071.7:c.1376C>G MANE Select ENSP00000339004.3:p.Ser459Cys
ENST00000313071.6:c.1376C>G ENSP00000339004.3:p.Ser459Cys
NM_005249.4:c.1376C>G NP_005240.3:p.Ser459Cys
NM_005249.5:c.1376C>G MANE Select NP_005240.3:p.Ser459Cys