Canonical Allele Identifier: CA486099051

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 1139798
• ClinVar RCV Id: RCV001476635 ; RCV002264342
• dbSNP Id: rs570340475
• gnomAD v2: 14-29237322-C-G
• gnomAD v4: 14-28768116-C-G
• MyVariant Identifiers: chr14:g.29237322C>G (hg19) ; chr14:g.28768116C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28768116C>G , CM000676.2:g.28768116C>G	GRCh38
NC_000014.8:g.29237322C>G , CM000676.1:g.29237322C>G	GRCh37
NC_000014.7:g.28307073C>G	NCBI36
NG_009367.1:g.6036C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000706482.1:c.837C>G	ENSP00000516406.1:p.Thr279=
ENST00000313071.7:c.837C>G MANE Select	ENSP00000339004.3:p.Thr279=
ENST00000313071.6:c.837C>G	ENSP00000339004.3:p.Thr279=
NM_005249.4:c.837C>G	NP_005240.3:p.Thr279=
NM_005249.5:c.837C>G MANE Select	NP_005240.3:p.Thr279=