Canonical Allele Identifier: CA16619861
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424541
ClinVar RCV Id: RCV000480058
dbSNP Id: rs1064797030

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767864_28767865delinsTT , CM000676.2:g.28767864_28767865delinsTT GRCh38
NC_000014.8:g.29237070_29237071delinsTT , CM000676.1:g.29237070_29237071delinsTT GRCh37
NC_000014.7:g.28306821_28306822delinsTT NCBI36
NG_009367.1:g.5784_5785delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000706482.1:c.585_586delinsTT ENSP00000516406.1:p.Arg196Ter
ENST00000313071.7:c.585_586delinsTT MANE Select ENSP00000339004.3:p.Arg196Ter
ENST00000313071.6:c.585_586delinsTT ENSP00000339004.3:p.Arg196Ter
NM_005249.4:c.585_586delinsTT NP_005240.3:p.Arg196Ter
NM_005249.5:c.585_586delinsTT MANE Select NP_005240.3:p.Arg196Ter