Canonical Allele Identifier: CA258396567
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2170298
ClinVar RCV Id: RCV003085269
dbSNP Id: rs1009176831
gnomAD v2: 14-29236899-G-T
gnomAD v4: 14-28767693-G-T
MyVariant Identifiers: chr14:g.29236899G>T (hg19) chr14:g.28767693G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767693G>T , CM000676.2:g.28767693G>T GRCh38
NC_000014.8:g.29236899G>T , CM000676.1:g.29236899G>T GRCh37
NC_000014.7:g.28306650G>T NCBI36
NG_009367.1:g.5613G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.414G>T ENSP00000516406.1:p.Ala138=
ENST00000313071.7:c.414G>T MANE Select ENSP00000339004.3:p.Ala138=
ENST00000313071.6:c.414G>T ENSP00000339004.3:p.Ala138=
NM_005249.4:c.414G>T NP_005240.3:p.Ala138=
NM_005249.5:c.414G>T MANE Select NP_005240.3:p.Ala138=
Search 100 bp 5'
Search 100 bp 3'