Canonical Allele Identifier: CA486098453

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 1578993
• ClinVar RCV Id: RCV002090895 ; RCV003329433
• dbSNP Id: rs765799544
• gnomAD v2: 14-29237517-G-C
• gnomAD v3: 14-28768311-G-C
• gnomAD v4: 14-28768311-G-C
• MyVariant Identifiers: chr14:g.29237517G>C (hg19) ; chr14:g.28768311G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28768311G>C , CM000676.2:g.28768311G>C	GRCh38
NC_000014.8:g.29237517G>C , CM000676.1:g.29237517G>C	GRCh37
NC_000014.7:g.28307268G>C	NCBI36
NG_009367.1:g.6231G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.1032G>C	ENSP00000516406.1:p.Val344=
ENST00000313071.7:c.1032G>C MANE Select	ENSP00000339004.3:p.Val344=
ENST00000313071.6:c.1032G>C	ENSP00000339004.3:p.Val344=
NM_005249.4:c.1032G>C	NP_005240.3:p.Val344=
NM_005249.5:c.1032G>C MANE Select	NP_005240.3:p.Val344=