Canonical Allele Identifier: CA389474679
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2415065
dbSNP Id: rs1313046455

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767509C>T , CM000676.2:g.28767509C>T GRCh38
NC_000014.8:g.29236715C>T , CM000676.1:g.29236715C>T GRCh37
NC_000014.7:g.28306466C>T NCBI36
NG_009367.1:g.5429C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.230C>T ENSP00000516406.1:p.Pro77Leu
ENST00000313071.7:c.230C>T MANE Select ENSP00000339004.3:p.Pro77Leu
ENST00000313071.6:c.230C>T ENSP00000339004.3:p.Pro77Leu
NM_005249.4:c.230C>T NP_005240.3:p.Pro77Leu
NM_005249.5:c.230C>T MANE Select NP_005240.3:p.Pro77Leu