Canonical Allele Identifier: CA389474671
Gene: FOXG1 HGNC NCBI

Linked Data

dbSNP Id: rs1381438340
gnomAD v2: 14-29236712-C-A
gnomAD v4: 14-28767506-C-A
MyVariant Identifiers: chr14:g.29236712C>A (hg19) chr14:g.28767506C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767506C>A , CM000676.2:g.28767506C>A GRCh38
NC_000014.8:g.29236712C>A , CM000676.1:g.29236712C>A GRCh37
NC_000014.7:g.28306463C>A NCBI36
NG_009367.1:g.5426C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.227C>A ENSP00000516406.1:p.Pro76Gln
ENST00000313071.7:c.227C>A MANE Select ENSP00000339004.3:p.Pro76Gln
ENST00000313071.6:c.227C>A ENSP00000339004.3:p.Pro76Gln
NM_005249.4:c.227C>A NP_005240.3:p.Pro76Gln
NM_005249.5:c.227C>A MANE Select NP_005240.3:p.Pro76Gln
Search 100 bp 5'
Search 100 bp 3'