Canonical Allele Identifier: CA389476085
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1372241
ClinVar RCV Id: RCV001872836
dbSNP Id: rs2138661708
MyVariant Identifiers: chr14:g.29237378C>G (hg19) chr14:g.28768172C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768172C>G , CM000676.2:g.28768172C>G GRCh38
NC_000014.8:g.29237378C>G , CM000676.1:g.29237378C>G GRCh37
NC_000014.7:g.28307129C>G NCBI36
NG_009367.1:g.6092C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.893C>G ENSP00000516406.1:p.Thr298Ser
ENST00000313071.7:c.893C>G MANE Select ENSP00000339004.3:p.Thr298Ser
ENST00000313071.6:c.893C>G ENSP00000339004.3:p.Thr298Ser
NM_005249.4:c.893C>G NP_005240.3:p.Thr298Ser
NM_005249.5:c.893C>G MANE Select NP_005240.3:p.Thr298Ser
Search 100 bp 5'
Search 100 bp 3'