Canonical Allele Identifier: CA222858
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 95269
ClinVar RCV Id: RCV000081282 RCV000681508 RCV000822082
dbSNP Id: rs398124205
gnomAD v2: 14-29236956-G-T
gnomAD v4: 14-28767750-G-T
MyVariant Identifiers: chr14:g.29236956G>T (hg19) chr14:g.28767750G>T (hg38)
ERepo: CA222858/MONDO:0100040/016
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767750G>T , CM000676.2:g.28767750G>T GRCh38
NC_000014.8:g.29236956G>T , CM000676.1:g.29236956G>T GRCh37
NC_000014.7:g.28306707G>T NCBI36
NG_009367.1:g.5670G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000706482.1:c.471G>T ENSP00000516406.1:p.Lys157Asn
ENST00000313071.7:c.471G>T MANE Select ENSP00000339004.3:p.Lys157Asn
ENST00000313071.6:c.471G>T ENSP00000339004.3:p.Lys157Asn
NM_005249.4:c.471G>T NP_005240.3:p.Lys157Asn
NM_005249.5:c.471G>T MANE Select NP_005240.3:p.Lys157Asn
Search 100 bp 5'
Search 100 bp 3'