Canonical Allele Identifier: CA389474627
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1304019
ClinVar RCV Id: RCV001758312
dbSNP Id: rs727503933
gnomAD v4: 14-28767485-C-T
MyVariant Identifiers: chr14:g.29236691C>T (hg19) chr14:g.28767485C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767485C>T , CM000676.2:g.28767485C>T GRCh38
NC_000014.8:g.29236691C>T , CM000676.1:g.29236691C>T GRCh37
NC_000014.7:g.28306442C>T NCBI36
NG_009367.1:g.5405C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.206C>T ENSP00000516406.1:p.Pro69Leu
ENST00000313071.7:c.206C>T MANE Select ENSP00000339004.3:p.Pro69Leu
ENST00000313071.6:c.206C>T ENSP00000339004.3:p.Pro69Leu
NM_005249.4:c.206C>T NP_005240.3:p.Pro69Leu
NM_005249.5:c.206C>T MANE Select NP_005240.3:p.Pro69Leu
Search 100 bp 5'
Search 100 bp 3'