Canonical Allele Identifier: CA7140675
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 377895
ClinVar RCV Id: RCV001705570 RCV002061394 RCV002418250
dbSNP Id: rs777770149
ExAC: 14:29237739 C / T
gnomAD v2: 14-29237739-C-T
gnomAD v3: 14-28768533-C-T
gnomAD v4: 14-28768533-C-T
COSMIC: COSM3495613
MyVariant Identifiers: chr14:g.29237739C>T (hg19) chr14:g.28768533C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768533C>T , CM000676.2:g.28768533C>T GRCh38
NC_000014.8:g.29237739C>T , CM000676.1:g.29237739C>T GRCh37
NC_000014.7:g.28307490C>T NCBI36
NG_009367.1:g.6453C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.1254C>T ENSP00000516406.1:p.Phe418=
ENST00000313071.7:c.1254C>T MANE Select ENSP00000339004.3:p.Phe418=
ENST00000313071.6:c.1254C>T ENSP00000339004.3:p.Phe418=
NM_005249.4:c.1254C>T NP_005240.3:p.Phe418=
NM_005249.5:c.1254C>T MANE Select NP_005240.3:p.Phe418=
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