Canonical Allele Identifier: CA258396578
Gene: FOXG1 HGNC NCBI

Linked Data

dbSNP Id: rs199502880
gnomAD v2: 14-29237171-T-C
gnomAD v4: 14-28767965-T-C
MyVariant Identifiers: chr14:g.29237171T>C (hg19) chr14:g.28767965T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767965T>C , CM000676.2:g.28767965T>C GRCh38
NC_000014.8:g.29237171T>C , CM000676.1:g.29237171T>C GRCh37
NC_000014.7:g.28306922T>C NCBI36
NG_009367.1:g.5885T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000706482.1:c.686T>C ENSP00000516406.1:p.Ile229Thr
ENST00000313071.7:c.686T>C MANE Select ENSP00000339004.3:p.Ile229Thr
ENST00000313071.6:c.686T>C ENSP00000339004.3:p.Ile229Thr
NM_005249.4:c.686T>C NP_005240.3:p.Ile229Thr
NM_005249.5:c.686T>C MANE Select NP_005240.3:p.Ile229Thr
Search 100 bp 5'
Search 100 bp 3'