Canonical Allele Identifier: CA486098080
Gene: FOXG1 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.28767513G>A
GRCh37 chr14:g.29236719G>A
gnomAD v3:
14:28767513 G / A
gnomAD v4:
chr14-28767513-G-A
Joint Max Group AF 0.00000497 (NFE)
Genomes Max Group AF 0.00000503 (NFE)
Exomes Max Group AF 0.0000037 (NFE)
ClinVar Allele:
2090720
ClinVar RCV:
RCV002872785
ClinVar Variation:
2037960
dbSNP:
1249389474
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767513G>A , CM000676.2:g.28767513G>A GRCh38
NC_000014.8:g.29236719G>A , CM000676.1:g.29236719G>A GRCh37
NC_000014.7:g.28306470G>A NCBI36
NG_009367.1:g.5433G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.234G>A ENSP00000516406.1:p.Pro78=
ENST00000313071.7:c.234G>A MANE Select ENSP00000339004.3:p.Pro78=
ENST00000313071.6:c.234G>A ENSP00000339004.3:p.Pro78=
NM_005249.4:c.234G>A NP_005240.3:p.Pro78=
NM_005249.5:c.234G>A MANE Select NP_005240.3:p.Pro78=
Search 100 bp 5'
Search 100 bp 3'