Canonical Allele Identifier: CA389474686
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 589083
ClinVar RCV Id: RCV002318026
dbSNP Id: rs1054291031

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767514C>T , CM000676.2:g.28767514C>T GRCh38
NC_000014.8:g.29236720C>T , CM000676.1:g.29236720C>T GRCh37
NC_000014.7:g.28306471C>T NCBI36
NG_009367.1:g.5434C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.235C>T ENSP00000516406.1:p.Pro79Ser
ENST00000313071.7:c.235C>T MANE Select ENSP00000339004.3:p.Pro79Ser
ENST00000313071.6:c.235C>T ENSP00000339004.3:p.Pro79Ser
NM_005249.4:c.235C>T NP_005240.3:p.Pro79Ser
NM_005249.5:c.235C>T MANE Select NP_005240.3:p.Pro79Ser