Canonical Allele Identifier: CA206112
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 211032
ClinVar RCV Id: RCV000192946 RCV000766682 RCV000989198
dbSNP Id: rs797045583
MyVariant Identifiers: chr14:g.29236915G>A (hg19) chr14:g.28767709G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767709G>A , CM000676.2:g.28767709G>A GRCh38
NC_000014.8:g.29236915G>A , CM000676.1:g.29236915G>A GRCh37
NC_000014.7:g.28306666G>A NCBI36
NG_009367.1:g.5629G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.430G>A ENSP00000516406.1:p.Glu144Lys
ENST00000313071.7:c.430G>A MANE Select ENSP00000339004.3:p.Glu144Lys
ENST00000313071.6:c.430G>A ENSP00000339004.3:p.Glu144Lys
NM_005249.4:c.430G>A NP_005240.3:p.Glu144Lys
NM_005249.5:c.430G>A MANE Select NP_005240.3:p.Glu144Lys
Search 100 bp 5'
Search 100 bp 3'