Canonical Allele Identifier: CA389474561
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2963929
ClinVar RCV Id: RCV003825567
dbSNP Id: rs2138660206
gnomAD v4: 14-28767452-C-A
MyVariant Identifiers: chr14:g.29236658C>A (hg19) chr14:g.28767452C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767452C>A , CM000676.2:g.28767452C>A GRCh38
NC_000014.8:g.29236658C>A , CM000676.1:g.29236658C>A GRCh37
NC_000014.7:g.28306409C>A NCBI36
NG_009367.1:g.5372C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000706482.1:c.173C>A ENSP00000516406.1:p.Pro58Gln
ENST00000313071.7:c.173C>A MANE Select ENSP00000339004.3:p.Pro58Gln
ENST00000313071.6:c.173C>A ENSP00000339004.3:p.Pro58Gln
NM_005249.4:c.173C>A NP_005240.3:p.Pro58Gln
NM_005249.5:c.173C>A MANE Select NP_005240.3:p.Pro58Gln
Search 100 bp 5'
Search 100 bp 3'