Canonical Allele Identifier: CA7140590
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3042410
ClinVar RCV Id: RCV003924539
dbSNP Id: rs761703699

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767485_28767487del , CM000676.2:g.28767485_28767487del GRCh38
NC_000014.8:g.29236691_29236693del , CM000676.1:g.29236691_29236693del GRCh37
NC_000014.7:g.28306442_28306444del NCBI36
NG_009367.1:g.5405_5407del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.206_208del ENSP00000516406.1:p.Pro69del
ENST00000313071.7:c.206_208del MANE Select ENSP00000339004.3:p.Pro69del
ENST00000313071.6:c.206_208del ENSP00000339004.3:p.Pro69del
NM_005249.4:c.206_208del NP_005240.3:p.Pro69del
NM_005249.5:c.206_208del MANE Select NP_005240.3:p.Pro69del