Canonical Allele Identifier: CA389474957
Gene: FOXG1 HGNC NCBI

Linked Data

gnomAD v4: 14-28767650-T-A
MyVariant Identifiers: chr14:g.29236856T>A (hg19) chr14:g.28767650T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767650T>A , CM000676.2:g.28767650T>A GRCh38
NC_000014.8:g.29236856T>A , CM000676.1:g.29236856T>A GRCh37
NC_000014.7:g.28306607T>A NCBI36
NG_009367.1:g.5570T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.371T>A ENSP00000516406.1:p.Leu124Gln
ENST00000313071.7:c.371T>A MANE Select ENSP00000339004.3:p.Leu124Gln
ENST00000313071.6:c.371T>A ENSP00000339004.3:p.Leu124Gln
NM_005249.4:c.371T>A NP_005240.3:p.Leu124Gln
NM_005249.5:c.371T>A MANE Select NP_005240.3:p.Leu124Gln
Search 100 bp 5'
Search 100 bp 3'