Canonical Allele Identifier: CA486098186

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 1160946
• ClinVar RCV Id: RCV001505245
• dbSNP Id: rs1472196179
• gnomAD v2: 14-29236926-G-A
• gnomAD v3: 14-28767720-G-A
• gnomAD v4: 14-28767720-G-A
• MyVariant Identifiers: chr14:g.29236926G>A (hg19) ; chr14:g.28767720G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28767720G>A , CM000676.2:g.28767720G>A	GRCh38
NC_000014.8:g.29236926G>A , CM000676.1:g.29236926G>A	GRCh37
NC_000014.7:g.28306677G>A	NCBI36
NG_009367.1:g.5640G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.441G>A	ENSP00000516406.1:p.Lys147=
ENST00000313071.7:c.441G>A MANE Select	ENSP00000339004.3:p.Lys147=
ENST00000313071.6:c.441G>A	ENSP00000339004.3:p.Lys147=
NM_005249.4:c.441G>A	NP_005240.3:p.Lys147=
NM_005249.5:c.441G>A MANE Select	NP_005240.3:p.Lys147=