Canonical Allele Identifier: CA199440
Gene: FOXG1 HGNC NCBI
COSMIC:
COSM275209
MyVariant.info:
GRCh38 chr14:g.28767968G>A
GRCh37 chr14:g.29237174G>A
Revel Score:
ENST00000382535 0.962
ENST00000313071 (MANE Select) 0.962
ClinVar RCV:
RCV000170080
ClinVar Variation:
189618
dbSNP:
786205007
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767968G>A , CM000676.2:g.28767968G>A GRCh38
NC_000014.8:g.29237174G>A , CM000676.1:g.29237174G>A GRCh37
NC_000014.7:g.28306925G>A NCBI36
NG_009367.1:g.5888G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.689G>A ENSP00000516406.1:p.Arg230His
ENST00000313071.7:c.689G>A MANE Select ENSP00000339004.3:p.Arg230His
ENST00000313071.6:c.689G>A ENSP00000339004.3:p.Arg230His
NM_005249.4:c.689G>A NP_005240.3:p.Arg230His
NM_005249.5:c.689G>A MANE Select NP_005240.3:p.Arg230His
Search 100 bp 5'
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