Canonical Allele Identifier: CA314578

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 205469
• ClinVar RCV Id: RCV000187439 ; RCV000648322 ; RCV001704984 ; RCV002311266
• dbSNP Id: rs796052453
• gnomAD v2: 14-29236730-C-A
• gnomAD v3: 14-28767524-C-A
• gnomAD v4: 14-28767524-C-A
• MyVariant Identifiers: chr14:g.29236730C>A (hg19) ; chr14:g.28767524C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28767524C>A , CM000676.2:g.28767524C>A	GRCh38
NC_000014.8:g.29236730C>A , CM000676.1:g.29236730C>A	GRCh37
NC_000014.7:g.28306481C>A	NCBI36
NG_009367.1:g.5444C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.245C>A	ENSP00000516406.1:p.Pro82Gln
ENST00000313071.7:c.245C>A MANE Select	ENSP00000339004.3:p.Pro82Gln
ENST00000313071.6:c.245C>A	ENSP00000339004.3:p.Pro82Gln
NM_005249.4:c.245C>A	NP_005240.3:p.Pro82Gln
NM_005249.5:c.245C>A MANE Select	NP_005240.3:p.Pro82Gln