Canonical Allele Identifier: CA389475738
Gene: FOXG1 HGNC NCBI

Linked Data

dbSNP Id: rs1454795723
gnomAD v2: 14-29237213-C-G
gnomAD v4: 14-28768007-C-G
MyVariant Identifiers: chr14:g.29237213C>G (hg19) chr14:g.28768007C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768007C>G , CM000676.2:g.28768007C>G GRCh38
NC_000014.8:g.29237213C>G , CM000676.1:g.29237213C>G GRCh37
NC_000014.7:g.28306964C>G NCBI36
NG_009367.1:g.5927C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.728C>G ENSP00000516406.1:p.Pro243Arg
ENST00000313071.7:c.728C>G MANE Select ENSP00000339004.3:p.Pro243Arg
ENST00000313071.6:c.728C>G ENSP00000339004.3:p.Pro243Arg
NM_005249.4:c.728C>G NP_005240.3:p.Pro243Arg
NM_005249.5:c.728C>G MANE Select NP_005240.3:p.Pro243Arg
Search 100 bp 5'
Search 100 bp 3'