Canonical Allele Identifier: CA7140631
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1762037
ClinVar RCV Id: RCV002419522
dbSNP Id: rs374673901
ExAC: 14:29237295 G / A
gnomAD v2: 14-29237295-G-A
gnomAD v4: 14-28768089-G-A
MyVariant Identifiers: chr14:g.29237295G>A (hg19) chr14:g.28768089G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768089G>A , CM000676.2:g.28768089G>A GRCh38
NC_000014.8:g.29237295G>A , CM000676.1:g.29237295G>A GRCh37
NC_000014.7:g.28307046G>A NCBI36
NG_009367.1:g.6009G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.810G>A ENSP00000516406.1:p.Thr270=
ENST00000313071.7:c.810G>A MANE Select ENSP00000339004.3:p.Thr270=
ENST00000313071.6:c.810G>A ENSP00000339004.3:p.Thr270=
NM_005249.4:c.810G>A NP_005240.3:p.Thr270=
NM_005249.5:c.810G>A MANE Select NP_005240.3:p.Thr270=
Search 100 bp 5'
Search 100 bp 3'