Canonical Allele Identifier: CA314594

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 205477
• ClinVar RCV Id: RCV000187447 ; RCV001206355 ; RCV001704987 ; RCV002444758
• dbSNP Id: rs747138265
• ExAC: 14:29237763 G / A
• gnomAD v2: 14-29237763-G-A
• gnomAD v3: 14-28768557-G-A
• gnomAD v4: 14-28768557-G-A
• MyVariant Identifiers: chr14:g.29237763G>A (hg19) ; chr14:g.28768557G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28768557G>A , CM000676.2:g.28768557G>A	GRCh38
NC_000014.8:g.29237763G>A , CM000676.1:g.29237763G>A	GRCh37
NC_000014.7:g.28307514G>A	NCBI36
NG_009367.1:g.6477G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.1278G>A	ENSP00000516406.1:p.Met426Ile
ENST00000313071.7:c.1278G>A MANE Select	ENSP00000339004.3:p.Met426Ile
ENST00000313071.6:c.1278G>A	ENSP00000339004.3:p.Met426Ile
NM_005249.4:c.1278G>A	NP_005240.3:p.Met426Ile
NM_005249.5:c.1278G>A MANE Select	NP_005240.3:p.Met426Ile