Canonical Allele Identifier: CA389475524
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 807103
ClinVar RCV Id: RCV000995164
dbSNP Id: rs1594383648
MyVariant Identifiers: chr14:g.29237117T>A (hg19) chr14:g.28767911T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767911T>A , CM000676.2:g.28767911T>A GRCh38
NC_000014.8:g.29237117T>A , CM000676.1:g.29237117T>A GRCh37
NC_000014.7:g.28306868T>A NCBI36
NG_009367.1:g.5831T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.632T>A ENSP00000516406.1:p.Ile211Asn
ENST00000313071.7:c.632T>A MANE Select ENSP00000339004.3:p.Ile211Asn
ENST00000313071.6:c.632T>A ENSP00000339004.3:p.Ile211Asn
NM_005249.4:c.632T>A NP_005240.3:p.Ile211Asn
NM_005249.5:c.632T>A MANE Select NP_005240.3:p.Ile211Asn
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