Canonical Allele Identifier: CA117109

Gene: FOXL2

Linked Data

• ClinVar Variation Id: 4871
• ClinVar RCV Id: RCV000005147 ; RCV000192031 ; RCV002251877 ; RCV003546451
• dbSNP Id: rs121908359
• gnomAD v2: 3-138665005-C-T
• gnomAD v3: 3-138946163-C-T
• gnomAD v4: 3-138946163-C-T
• MyVariant Identifiers: chr3:g.138665005C>T (hg19) ; chr3:g.138946163C>T (hg38)
• PubMed: PMID:12161610 ; PMID:19429596 ; PMID:20301614

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138946163C>T , CM000665.2:g.138946163C>T	GRCh38
NC_000003.11:g.138665005C>T , CM000665.1:g.138665005C>T	GRCh37
NC_000003.10:g.140147695C>T	NCBI36
NG_012454.1:g.5978G>A
NG_029796.1:g.3930C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648323.1:c.560G>A MANE Select	ENSP00000497217.1:p.Gly187Asp
ENST00000330315.3:c.560G>A	ENSP00000333188.3:p.Gly187Asp
NM_023067.3:c.560G>A	NP_075555.1:p.Gly187Asp
NM_023067.4:c.560G>A MANE Select	NP_075555.1:p.Gly187Asp