Canonical Allele Identifier: CA389477304
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1773061
ClinVar RCV Id: RCV002394717
dbSNP Id: rs1383814555
gnomAD v4: 14-28768735-C-T
MyVariant Identifiers: chr14:g.29237941C>T (hg19) chr14:g.28768735C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768735C>T , CM000676.2:g.28768735C>T GRCh38
NC_000014.8:g.29237941C>T , CM000676.1:g.29237941C>T GRCh37
NC_000014.7:g.28307692C>T NCBI36
NG_009367.1:g.6655C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.1456C>T ENSP00000516406.1:p.Pro486Ser
ENST00000313071.7:c.1456C>T MANE Select ENSP00000339004.3:p.Pro486Ser
ENST00000313071.6:c.1456C>T ENSP00000339004.3:p.Pro486Ser
NM_005249.4:c.1456C>T NP_005240.3:p.Pro486Ser
NM_005249.5:c.1456C>T MANE Select NP_005240.3:p.Pro486Ser
Search 100 bp 5'
Search 100 bp 3'