Canonical Allele Identifier: CA7140688
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590044
ClinVar RCV Id: RCV001409255 RCV001637121 RCV002318227
dbSNP Id: rs369183477
ExAC: 14:29237880 G / A
gnomAD v2: 14-29237880-G-A
gnomAD v4: 14-28768674-G-A
COSMIC: COSM955150
MyVariant Identifiers: chr14:g.29237880G>A (hg19) chr14:g.28768674G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768674G>A , CM000676.2:g.28768674G>A GRCh38
NC_000014.8:g.29237880G>A , CM000676.1:g.29237880G>A GRCh37
NC_000014.7:g.28307631G>A NCBI36
NG_009367.1:g.6594G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.1395G>A ENSP00000516406.1:p.Thr465=
ENST00000313071.7:c.1395G>A MANE Select ENSP00000339004.3:p.Thr465=
ENST00000313071.6:c.1395G>A ENSP00000339004.3:p.Thr465=
NM_005249.4:c.1395G>A NP_005240.3:p.Thr465=
NM_005249.5:c.1395G>A MANE Select NP_005240.3:p.Thr465=
Search 100 bp 5'
Search 100 bp 3'