Canonical Allele Identifier: CA7140634
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2147443
ClinVar RCV Id: RCV003060897
dbSNP Id: rs757832735
ExAC: 14:29237328 G / A
gnomAD v2: 14-29237328-G-A
gnomAD v3: 14-28768122-G-A
gnomAD v4: 14-28768122-G-A
MyVariant Identifiers: chr14:g.29237328G>A (hg19) chr14:g.28768122G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768122G>A , CM000676.2:g.28768122G>A GRCh38
NC_000014.8:g.29237328G>A , CM000676.1:g.29237328G>A GRCh37
NC_000014.7:g.28307079G>A NCBI36
NG_009367.1:g.6042G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.843G>A ENSP00000516406.1:p.Arg281=
ENST00000313071.7:c.843G>A MANE Select ENSP00000339004.3:p.Arg281=
ENST00000313071.6:c.843G>A ENSP00000339004.3:p.Arg281=
NM_005249.4:c.843G>A NP_005240.3:p.Arg281=
NM_005249.5:c.843G>A MANE Select NP_005240.3:p.Arg281=
Search 100 bp 5'
Search 100 bp 3'