Canonical Allele Identifier: CA389474806
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1436807
ClinVar RCV Id: RCV001955342
dbSNP Id: rs2138660575

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767574C>G , CM000676.2:g.28767574C>G GRCh38
NC_000014.8:g.29236780C>G , CM000676.1:g.29236780C>G GRCh37
NC_000014.7:g.28306531C>G NCBI36
NG_009367.1:g.5494C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.295C>G ENSP00000516406.1:p.Pro99Ala
ENST00000313071.7:c.295C>G MANE Select ENSP00000339004.3:p.Pro99Ala
ENST00000313071.6:c.295C>G ENSP00000339004.3:p.Pro99Ala
NM_005249.4:c.295C>G NP_005240.3:p.Pro99Ala
NM_005249.5:c.295C>G MANE Select NP_005240.3:p.Pro99Ala