Canonical Allele Identifier: CA613324867
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1406811
ClinVar RCV Id: RCV001916007
dbSNP Id: rs1231147476
gnomAD v2: 14-29236806-GCCACCGCCA-G
gnomAD v3: 14-28767600-GCCACCGCCA-G
gnomAD v4: 14-28767600-GCCACCGCCA-G
MyVariant Identifiers: chr14:g.29236807_29236815del (hg19) chr14:g.28767601_28767609del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767607_28767615del , CM000676.2:g.28767607_28767615del GRCh38
NC_000014.8:g.29236813_29236821del , CM000676.1:g.29236813_29236821del GRCh37
NC_000014.7:g.28306564_28306572del NCBI36
NG_009367.1:g.5527_5535del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.328_336del ENSP00000516406.1:p.Pro110_Pro112del
ENST00000313071.7:c.328_336del MANE Select ENSP00000339004.3:p.Pro110_Pro112del
ENST00000313071.6:c.328_336del ENSP00000339004.3:p.Pro110_Pro112del
NM_005249.4:c.328_336del NP_005240.3:p.Pro110_Pro112del
NM_005249.5:c.328_336del MANE Select NP_005240.3:p.Pro110_Pro112del
Search 100 bp 5'
Search 100 bp 3'