Canonical Allele Identifier: CA7140627
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1583835
ClinVar RCV Id: RCV002100035
dbSNP Id: rs774525510
ExAC: 14:29237214 G / C
gnomAD v2: 14-29237214-G-C
gnomAD v4: 14-28768008-G-C
MyVariant Identifiers: chr14:g.29237214G>C (hg19) chr14:g.28768008G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768008G>C , CM000676.2:g.28768008G>C GRCh38
NC_000014.8:g.29237214G>C , CM000676.1:g.29237214G>C GRCh37
NC_000014.7:g.28306965G>C NCBI36
NG_009367.1:g.5928G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.729G>C ENSP00000516406.1:p.Pro243=
ENST00000313071.7:c.729G>C MANE Select ENSP00000339004.3:p.Pro243=
ENST00000313071.6:c.729G>C ENSP00000339004.3:p.Pro243=
NM_005249.4:c.729G>C NP_005240.3:p.Pro243=
NM_005249.5:c.729G>C MANE Select NP_005240.3:p.Pro243=
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