Canonical Allele Identifier: CA10654766

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 369681
• ClinVar RCV Id: RCV000408627 ; RCV001577698
• dbSNP Id: rs767961672
• gnomAD v4: 14-28767822-G-T
• MyVariant Identifiers: chr14:g.29237028G>T (hg19) ; chr14:g.28767822G>T (hg38)
• PubMed: PMID:26938784

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28767822G>T , CM000676.2:g.28767822G>T	GRCh38
NC_000014.8:g.29237028G>T , CM000676.1:g.29237028G>T	GRCh37
NC_000014.7:g.28306779G>T	NCBI36
NG_009367.1:g.5742G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.543G>T	ENSP00000516406.1:p.Lys181Asn
ENST00000313071.7:c.543G>T MANE Select	ENSP00000339004.3:p.Lys181Asn
ENST00000313071.6:c.543G>T	ENSP00000339004.3:p.Lys181Asn
NM_005249.4:c.543G>T	NP_005240.3:p.Lys181Asn
NM_005249.5:c.543G>T MANE Select	NP_005240.3:p.Lys181Asn