Canonical Allele Identifier: CA7140636
Gene: FOXG1 HGNC NCBI

Linked Data

dbSNP Id: rs745418016
ExAC: 14:29237343 C / A
gnomAD v2: 14-29237343-C-A
gnomAD v4: 14-28768137-C-A
MyVariant Identifiers: chr14:g.29237343C>A (hg19) chr14:g.28768137C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768137C>A , CM000676.2:g.28768137C>A GRCh38
NC_000014.8:g.29237343C>A , CM000676.1:g.29237343C>A GRCh37
NC_000014.7:g.28307094C>A NCBI36
NG_009367.1:g.6057C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.858C>A ENSP00000516406.1:p.Phe286Leu
ENST00000313071.7:c.858C>A MANE Select ENSP00000339004.3:p.Phe286Leu
ENST00000313071.6:c.858C>A ENSP00000339004.3:p.Phe286Leu
NM_005249.4:c.858C>A NP_005240.3:p.Phe286Leu
NM_005249.5:c.858C>A MANE Select NP_005240.3:p.Phe286Leu
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