Canonical Allele Identifier: CA314631
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 205497
ClinVar RCV Id: RCV000428947 RCV001210916
dbSNP Id: rs796052472
gnomAD v2: 14-29237530-T-G
gnomAD v3: 14-28768324-T-G
gnomAD v4: 14-28768324-T-G
MyVariant Identifiers: chr14:g.29237530T>G (hg19) chr14:g.28768324T>G (hg38)
ERepo: CA314631/MONDO:0100040/035
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28768324T>G , CM000676.2:g.28768324T>G GRCh38
NC_000014.8:g.29237530T>G , CM000676.1:g.29237530T>G GRCh37
NC_000014.7:g.28307281T>G NCBI36
NG_009367.1:g.6244T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.1045T>G ENSP00000516406.1:p.Ser349Ala
ENST00000313071.7:c.1045T>G MANE Select ENSP00000339004.3:p.Ser349Ala
ENST00000313071.6:c.1045T>G ENSP00000339004.3:p.Ser349Ala
NM_005249.4:c.1045T>G NP_005240.3:p.Ser349Ala
NM_005249.5:c.1045T>G MANE Select NP_005240.3:p.Ser349Ala
Search 100 bp 5'
Search 100 bp 3'