Canonical Allele Identifier: CA389477204
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2837204
ClinVar RCV Id: RCV003630669
MyVariant Identifiers: chr14:g.29237899T>A (hg19) chr14:g.28768693T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768693T>A , CM000676.2:g.28768693T>A GRCh38
NC_000014.8:g.29237899T>A , CM000676.1:g.29237899T>A GRCh37
NC_000014.7:g.28307650T>A NCBI36
NG_009367.1:g.6613T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.1414T>A ENSP00000516406.1:p.Ser472Thr
ENST00000313071.7:c.1414T>A MANE Select ENSP00000339004.3:p.Ser472Thr
ENST00000313071.6:c.1414T>A ENSP00000339004.3:p.Ser472Thr
NM_005249.4:c.1414T>A NP_005240.3:p.Ser472Thr
NM_005249.5:c.1414T>A MANE Select NP_005240.3:p.Ser472Thr
Search 100 bp 5'
Search 100 bp 3'