Canonical Allele Identifier: CA258396559
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1133709
ClinVar RCV Id: RCV001468358 RCV001581148
dbSNP Id: rs1035987967
gnomAD v2: 14-29236803-G-A
gnomAD v3: 14-28767597-G-A
gnomAD v4: 14-28767597-G-A
MyVariant Identifiers: chr14:g.29236803G>A (hg19) chr14:g.28767597G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767597G>A , CM000676.2:g.28767597G>A GRCh38
NC_000014.8:g.29236803G>A , CM000676.1:g.29236803G>A GRCh37
NC_000014.7:g.28306554G>A NCBI36
NG_009367.1:g.5517G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000706482.1:c.318G>A ENSP00000516406.1:p.Pro106=
ENST00000313071.7:c.318G>A MANE Select ENSP00000339004.3:p.Pro106=
ENST00000313071.6:c.318G>A ENSP00000339004.3:p.Pro106=
NM_005249.4:c.318G>A NP_005240.3:p.Pro106=
NM_005249.5:c.318G>A MANE Select NP_005240.3:p.Pro106=
Search 100 bp 5'
Search 100 bp 3'