Canonical Allele Identifier: CA486098485
Gene: FOXG1 HGNC NCBI

Linked Data

dbSNP Id: rs1172855999
gnomAD v2: 14-29237533-C-T
gnomAD v4: 14-28768327-C-T
COSMIC: COSM389123
MyVariant Identifiers: chr14:g.29237533C>T (hg19) chr14:g.28768327C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768327C>T , CM000676.2:g.28768327C>T GRCh38
NC_000014.8:g.29237533C>T , CM000676.1:g.29237533C>T GRCh37
NC_000014.7:g.28307284C>T NCBI36
NG_009367.1:g.6247C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.1048C>T ENSP00000516406.1:p.Leu350=
ENST00000313071.7:c.1048C>T MANE Select ENSP00000339004.3:p.Leu350=
ENST00000313071.6:c.1048C>T ENSP00000339004.3:p.Leu350=
NM_005249.4:c.1048C>T NP_005240.3:p.Leu350=
NM_005249.5:c.1048C>T MANE Select NP_005240.3:p.Leu350=
Search 100 bp 5'
Search 100 bp 3'