Canonical Allele Identifier: CA199431

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 189611
• ClinVar RCV Id: RCV000170072 ; RCV000187451
• dbSNP Id: rs398124202
• gnomAD v4: 14-28767535-C-T
• MyVariant Identifiers: chr14:g.29236741C>T (hg19) ; chr14:g.28767535C>T (hg38)
• PubMed: PMID:21441262

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28767535C>T , CM000676.2:g.28767535C>T	GRCh38
NC_000014.8:g.29236741C>T , CM000676.1:g.29236741C>T	GRCh37
NC_000014.7:g.28306492C>T	NCBI36
NG_009367.1:g.5455C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.256C>T	ENSP00000516406.1:p.Gln86Ter
ENST00000313071.7:c.256C>T MANE Select	ENSP00000339004.3:p.Gln86Ter
ENST00000313071.6:c.256C>T	ENSP00000339004.3:p.Gln86Ter
NM_005249.4:c.256C>T	NP_005240.3:p.Gln86Ter
NM_005249.5:c.256C>T MANE Select	NP_005240.3:p.Gln86Ter