Canonical Allele Identifier: CA258396556
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 506632
ClinVar RCV Id: RCV000607252 RCV001350850 RCV002456322 RCV003448911
dbSNP Id: rs1046668279
gnomAD v3: 14-28767542-G-A
gnomAD v4: 14-28767542-G-A
MyVariant Identifiers: chr14:g.29236748G>A (hg19) chr14:g.28767542G>A (hg38)
ERepo: CA258396556/MONDO:0100040/035
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767542G>A , CM000676.2:g.28767542G>A GRCh38
NC_000014.8:g.29236748G>A , CM000676.1:g.29236748G>A GRCh37
NC_000014.7:g.28306499G>A NCBI36
NG_009367.1:g.5462G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.263G>A ENSP00000516406.1:p.Arg88Gln
ENST00000313071.7:c.263G>A MANE Select ENSP00000339004.3:p.Arg88Gln
ENST00000313071.6:c.263G>A ENSP00000339004.3:p.Arg88Gln
NM_005249.4:c.263G>A NP_005240.3:p.Arg88Gln
NM_005249.5:c.263G>A MANE Select NP_005240.3:p.Arg88Gln
Search 100 bp 5'
Search 100 bp 3'