Canonical Allele Identifier: CA238810
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 193306
ClinVar RCV Id: RCV000173367 RCV000648323 RCV000724697 RCV002426828 RCV003448278
dbSNP Id: rs760663911
ExAC: 14:29236703 A / C
gnomAD v2: 14-29236703-A-C
gnomAD v3: 14-28767497-A-C
gnomAD v4: 14-28767497-A-C
MyVariant Identifiers: chr14:g.29236703A>C (hg19) chr14:g.29236703_29236706delinsCGCC (hg19) chr14:g.29236703_29236712delinsCGCCGCCGCC (hg19) chr14:g.28767497A>C (hg38) chr14:g.28767497_28767506delinsCGCCGCCGCC (hg38)
ERepo: CA238810/MONDO:0100040/035
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767497A>C , CM000676.2:g.28767497A>C GRCh38
NC_000014.8:g.29236703A>C , CM000676.1:g.29236703A>C GRCh37
NC_000014.7:g.28306454A>C NCBI36
NG_009367.1:g.5417A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.218A>C ENSP00000516406.1:p.Gln73Pro
ENST00000313071.7:c.218A>C MANE Select ENSP00000339004.3:p.Gln73Pro
ENST00000313071.6:c.218A>C ENSP00000339004.3:p.Gln73Pro
NM_005249.4:c.218A>C NP_005240.3:p.Gln73Pro
NM_005249.5:c.218A>C MANE Select NP_005240.3:p.Gln73Pro
Search 100 bp 5'
Search 100 bp 3'