Canonical Allele Identifier: CA613324862
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1115188
ClinVar RCV Id: RCV001443154 RCV002439042
dbSNP Id: rs1318259337
gnomAD v2: 14-29236763-CCGA-C
gnomAD v3: 14-28767557-CCGA-C
gnomAD v4: 14-28767557-CCGA-C
MyVariant Identifiers: chr14:g.29236764_29236766del (hg19) chr14:g.28767558_28767560del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767565_28767567del , CM000676.2:g.28767565_28767567del GRCh38
NC_000014.8:g.29236771_29236773del , CM000676.1:g.29236771_29236773del GRCh37
NC_000014.7:g.28306522_28306524del NCBI36
NG_009367.1:g.5485_5487del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.286_288del ENSP00000516406.1:p.Asp96del
ENST00000313071.7:c.286_288del MANE Select ENSP00000339004.3:p.Asp96del
ENST00000313071.6:c.286_288del ENSP00000339004.3:p.Asp96del
NM_005249.4:c.286_288del NP_005240.3:p.Asp96del
NM_005249.5:c.286_288del MANE Select NP_005240.3:p.Asp96del
Search 100 bp 5'
Search 100 bp 3'