Canonical Allele Identifier: CA486098813
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1148030
ClinVar RCV Id: RCV001487754
dbSNP Id: rs2138662412
MyVariant Identifiers: chr14:g.29237943T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768737T>C , CM000676.2:g.28768737T>C GRCh38
NC_000014.8:g.29237943T>C , CM000676.1:g.29237943T>C GRCh37
NC_000014.7:g.28307694T>C NCBI36
NG_009367.1:g.6657T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.1458T>C ENSP00000516406.1:p.Pro486=
ENST00000313071.7:c.1458T>C MANE Select ENSP00000339004.3:p.Pro486=
ENST00000313071.6:c.1458T>C ENSP00000339004.3:p.Pro486=
NM_005249.4:c.1458T>C NP_005240.3:p.Pro486=
NM_005249.5:c.1458T>C MANE Select NP_005240.3:p.Pro486=
Search 100 bp 5'
Search 100 bp 3'