Canonical Allele Identifier: CA1139663431
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 950543
ClinVar RCV Id: RCV001222273
dbSNP Id: rs1881819022
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768414del , CM000676.2:g.28768414del GRCh38
NC_000014.8:g.29237620del , CM000676.1:g.29237620del GRCh37
NC_000014.7:g.28307371del NCBI36
NG_009367.1:g.6334del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.1135del ENSP00000516406.1:p.Leu379SerfsTer6
ENST00000313071.7:c.1135del MANE Select ENSP00000339004.3:p.Leu379SerfsTer6
ENST00000313071.6:c.1135del ENSP00000339004.3:p.Leu379SerfsTer6
NM_005249.4:c.1135del NP_005240.3:p.Leu379SerfsTer6
NM_005249.5:c.1135del MANE Select NP_005240.3:p.Leu379SerfsTer6
Search 100 bp 5'
Search 100 bp 3'