Canonical Allele Identifier: CA389475100
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1510039
ClinVar RCV Id: RCV002011462
dbSNP Id: rs1417091060
MyVariant Identifiers: chr14:g.29236925A>T (hg19) chr14:g.28767719A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767719A>T , CM000676.2:g.28767719A>T GRCh38
NC_000014.8:g.29236925A>T , CM000676.1:g.29236925A>T GRCh37
NC_000014.7:g.28306676A>T NCBI36
NG_009367.1:g.5639A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.440A>T ENSP00000516406.1:p.Lys147Met
ENST00000313071.7:c.440A>T MANE Select ENSP00000339004.3:p.Lys147Met
ENST00000313071.6:c.440A>T ENSP00000339004.3:p.Lys147Met
NM_005249.4:c.440A>T NP_005240.3:p.Lys147Met
NM_005249.5:c.440A>T MANE Select NP_005240.3:p.Lys147Met
Search 100 bp 5'
Search 100 bp 3'