Canonical Allele Identifier: CA294776

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 158591
• ClinVar RCV Id: RCV000145985 ; RCV000576256 ; RCV002316930
• dbSNP Id: rs587783633
• ExAC: 14:29236694 A / C
• gnomAD v2: 14-29236694-A-C
• gnomAD v3: 14-28767488-A-C
• gnomAD v4: 14-28767488-A-C
• MyVariant Identifiers: chr14:g.29236694A>C (hg19) ; chr14:g.28767488A>C (hg38)
• ERepo: CA294776/MONDO:0100040/035

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28767488A>C , CM000676.2:g.28767488A>C	GRCh38
NC_000014.8:g.29236694A>C , CM000676.1:g.29236694A>C	GRCh37
NC_000014.7:g.28306445A>C	NCBI36
NG_009367.1:g.5408A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.209A>C	ENSP00000516406.1:p.Gln70Pro
ENST00000313071.7:c.209A>C MANE Select	ENSP00000339004.3:p.Gln70Pro
ENST00000313071.6:c.209A>C	ENSP00000339004.3:p.Gln70Pro
NM_005249.4:c.209A>C	NP_005240.3:p.Gln70Pro
NM_005249.5:c.209A>C MANE Select	NP_005240.3:p.Gln70Pro