Canonical Allele Identifier: CA172189
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 158597
ClinVar RCV Id: RCV000145993 RCV001719916 RCV003235069 RCV002316932
dbSNP Id: rs587783639
ExAC: 14:29237157 C / G
gnomAD v2: 14-29237157-C-G
gnomAD v4: 14-28767951-C-G
MyVariant Identifiers: chr14:g.29237157C>G (hg19) chr14:g.28767951C>G (hg38)
ERepo: CA172189/MONDO:0100040/033
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767951C>G , CM000676.2:g.28767951C>G GRCh38
NC_000014.8:g.29237157C>G , CM000676.1:g.29237157C>G GRCh37
NC_000014.7:g.28306908C>G NCBI36
NG_009367.1:g.5871C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.672C>G ENSP00000516406.1:p.Gly224=
ENST00000313071.7:c.672C>G MANE Select ENSP00000339004.3:p.Gly224=
ENST00000313071.6:c.672C>G ENSP00000339004.3:p.Gly224=
NM_005249.4:c.672C>G NP_005240.3:p.Gly224=
NM_005249.5:c.672C>G MANE Select NP_005240.3:p.Gly224=
Search 100 bp 5'
Search 100 bp 3'