Canonical Allele Identifier: CA314626
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205494
ClinVar RCV Id: RCV000187467
dbSNP Id: rs796052470
gnomAD v4: 14-28768123-G-A
MyVariant Identifiers: chr14:g.29237329G>A (hg19) chr14:g.28768123G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768123G>A , CM000676.2:g.28768123G>A GRCh38
NC_000014.8:g.29237329G>A , CM000676.1:g.29237329G>A GRCh37
NC_000014.7:g.28307080G>A NCBI36
NG_009367.1:g.6043G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000706482.1:c.844G>A ENSP00000516406.1:p.Ala282Thr
ENST00000313071.7:c.844G>A MANE Select ENSP00000339004.3:p.Ala282Thr
ENST00000313071.6:c.844G>A ENSP00000339004.3:p.Ala282Thr
NM_005249.4:c.844G>A NP_005240.3:p.Ala282Thr
NM_005249.5:c.844G>A MANE Select NP_005240.3:p.Ala282Thr
Search 100 bp 5'
Search 100 bp 3'