Canonical Allele Identifier: CA486098265
Gene: FOXG1 HGNC NCBI

Linked Data

dbSNP Id: rs2138660652
gnomAD v3: 14-28767615-G-A
gnomAD v4: 14-28767615-G-A
MyVariant Identifiers: chr14:g.29236821G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767615G>A , CM000676.2:g.28767615G>A GRCh38
NC_000014.8:g.29236821G>A , CM000676.1:g.29236821G>A GRCh37
NC_000014.7:g.28306572G>A NCBI36
NG_009367.1:g.5535G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.336G>A ENSP00000516406.1:p.Pro112=
ENST00000313071.7:c.336G>A MANE Select ENSP00000339004.3:p.Pro112=
ENST00000313071.6:c.336G>A ENSP00000339004.3:p.Pro112=
NM_005249.4:c.336G>A NP_005240.3:p.Pro112=
NM_005249.5:c.336G>A MANE Select NP_005240.3:p.Pro112=
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