Canonical Allele Identifier: CA7140594

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 478620
• ClinVar RCV Id: RCV000533388 ; RCV002325112 ; RCV003992329
• dbSNP Id: rs750512461
• ExAC: 14:29236809 A / G
• gnomAD v2: 14-29236809-A-G
• gnomAD v3: 14-28767603-A-G
• gnomAD v4: 14-28767603-A-G
• MyVariant Identifiers: chr14:g.29236809A>G (hg19) ; chr14:g.28767603A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28767603A>G , CM000676.2:g.28767603A>G	GRCh38
NC_000014.8:g.29236809A>G , CM000676.1:g.29236809A>G	GRCh37
NC_000014.7:g.28306560A>G	NCBI36
NG_009367.1:g.5523A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.324A>G	ENSP00000516406.1:p.Pro108=
ENST00000313071.7:c.324A>G MANE Select	ENSP00000339004.3:p.Pro108=
ENST00000313071.6:c.324A>G	ENSP00000339004.3:p.Pro108=
NM_005249.4:c.324A>G	NP_005240.3:p.Pro108=
NM_005249.5:c.324A>G MANE Select	NP_005240.3:p.Pro108=