Canonical Allele Identifier: CA314582

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 205471
• ClinVar RCV Id: RCV000187441 ; RCV000695180 ; RCV001704985 ; RCV002345670
• dbSNP Id: rs796052455
• gnomAD v2: 14-29236861-G-A
• gnomAD v3: 14-28767655-G-A
• gnomAD v4: 14-28767655-G-A
• MyVariant Identifiers: chr14:g.29236861G>A (hg19) ; chr14:g.28767655G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28767655G>A , CM000676.2:g.28767655G>A	GRCh38
NC_000014.8:g.29236861G>A , CM000676.1:g.29236861G>A	GRCh37
NC_000014.7:g.28306612G>A	NCBI36
NG_009367.1:g.5575G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.376G>A	ENSP00000516406.1:p.Gly126Ser
ENST00000313071.7:c.376G>A MANE Select	ENSP00000339004.3:p.Gly126Ser
ENST00000313071.6:c.376G>A	ENSP00000339004.3:p.Gly126Ser
NM_005249.4:c.376G>A	NP_005240.3:p.Gly126Ser
NM_005249.5:c.376G>A MANE Select	NP_005240.3:p.Gly126Ser