Canonical Allele Identifier: CA486098175
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2008224
ClinVar RCV Id: RCV002816527
MyVariant Identifiers: chr14:g.29236911G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767705G>T , CM000676.2:g.28767705G>T GRCh38
NC_000014.8:g.29236911G>T , CM000676.1:g.29236911G>T GRCh37
NC_000014.7:g.28306662G>T NCBI36
NG_009367.1:g.5625G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000706482.1:c.426G>T ENSP00000516406.1:p.Pro142=
ENST00000313071.7:c.426G>T MANE Select ENSP00000339004.3:p.Pro142=
ENST00000313071.6:c.426G>T ENSP00000339004.3:p.Pro142=
NM_005249.4:c.426G>T NP_005240.3:p.Pro142=
NM_005249.5:c.426G>T MANE Select NP_005240.3:p.Pro142=
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