Canonical Allele Identifier: CA7140687

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 381942
• ClinVar RCV Id: RCV001455011 ; RCV001703677
• dbSNP Id: rs755772051
• ExAC: 14:29237877 G / C
• gnomAD v2: 14-29237877-G-C
• gnomAD v3: 14-28768671-G-C
• gnomAD v4: 14-28768671-G-C
• COSMIC: COSM337382
• MyVariant Identifiers: chr14:g.29237877G>C (hg19) ; chr14:g.28768671G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28768671G>C , CM000676.2:g.28768671G>C	GRCh38
NC_000014.8:g.29237877G>C , CM000676.1:g.29237877G>C	GRCh37
NC_000014.7:g.28307628G>C	NCBI36
NG_009367.1:g.6591G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.1392G>C	ENSP00000516406.1:p.Thr464=
ENST00000313071.7:c.1392G>C MANE Select	ENSP00000339004.3:p.Thr464=
ENST00000313071.6:c.1392G>C	ENSP00000339004.3:p.Thr464=
NM_005249.4:c.1392G>C	NP_005240.3:p.Thr464=
NM_005249.5:c.1392G>C MANE Select	NP_005240.3:p.Thr464=