Canonical Allele Identifier: CA314596

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 205478
• ClinVar RCV Id: RCV000187448 ; RCV000648319 ; RCV002390492
• dbSNP Id: rs371279404
• ExAC: 14:29237884 C / T
• gnomAD v2: 14-29237884-C-T
• gnomAD v3: 14-28768678-C-T
• gnomAD v4: 14-28768678-C-T
• MyVariant Identifiers: chr14:g.29237884C>T (hg19) ; chr14:g.28768678C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28768678C>T , CM000676.2:g.28768678C>T	GRCh38
NC_000014.8:g.29237884C>T , CM000676.1:g.29237884C>T	GRCh37
NC_000014.7:g.28307635C>T	NCBI36
NG_009367.1:g.6598C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.1399C>T	ENSP00000516406.1:p.Leu467=
ENST00000313071.7:c.1399C>T MANE Select	ENSP00000339004.3:p.Leu467=
ENST00000313071.6:c.1399C>T	ENSP00000339004.3:p.Leu467=
NM_005249.4:c.1399C>T	NP_005240.3:p.Leu467=
NM_005249.5:c.1399C>T MANE Select	NP_005240.3:p.Leu467=