Canonical Allele Identifier: CA486098861
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 758424
ClinVar RCV Id: RCV001401979
dbSNP Id: rs1382215123
gnomAD v2: 14-29237220-C-T
gnomAD v3: 14-28768014-C-T
gnomAD v4: 14-28768014-C-T
COSMIC: COSM79871
MyVariant Identifiers: chr14:g.29237220C>T (hg19) chr14:g.28768014C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768014C>T , CM000676.2:g.28768014C>T GRCh38
NC_000014.8:g.29237220C>T , CM000676.1:g.29237220C>T GRCh37
NC_000014.7:g.28306971C>T NCBI36
NG_009367.1:g.5934C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000706482.1:c.735C>T ENSP00000516406.1:p.His245=
ENST00000313071.7:c.735C>T MANE Select ENSP00000339004.3:p.His245=
ENST00000313071.6:c.735C>T ENSP00000339004.3:p.His245=
NM_005249.4:c.735C>T NP_005240.3:p.His245=
NM_005249.5:c.735C>T MANE Select NP_005240.3:p.His245=
Search 100 bp 5'
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