Canonical Allele Identifier: CA172199

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 158602
• ClinVar RCV Id: RCV000145998 ; RCV000480864 ; RCV001507048
• dbSNP Id: rs587783643
• MyVariant Identifiers: chr14:g.29237284G>A (hg19) ; chr14:g.28768078G>A (hg38)
• ERepo: CA172199/MONDO:0100040/016

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28768078G>A , CM000676.2:g.28768078G>A	GRCh38
NC_000014.8:g.29237284G>A , CM000676.1:g.29237284G>A	GRCh37
NC_000014.7:g.28307035G>A	NCBI36
NG_009367.1:g.5998G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.799G>A	ENSP00000516406.1:p.Gly267Ser
ENST00000313071.7:c.799G>A MANE Select	ENSP00000339004.3:p.Gly267Ser
ENST00000313071.6:c.799G>A	ENSP00000339004.3:p.Gly267Ser
NM_005249.4:c.799G>A	NP_005240.3:p.Gly267Ser
NM_005249.5:c.799G>A MANE Select	NP_005240.3:p.Gly267Ser