Canonical Allele Identifier: CA347075
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 180599
ClinVar RCV Id: RCV000192038
dbSNP Id: rs797044530
MyVariant Identifiers: chr3:g.138664700_138664722dup23 (hg19) chr3:g.138664699_138664700insGCGGCGGAGGCGGGGGTGCGGCC (hg19) chr3:g.138945858_138945880dup23 (hg38) chr3:g.138945857_138945858insGCGGCGGAGGCGGGGGTGCGGCC (hg38)
PubMed: PMID:20301614
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138945859_138945881dup , CM000665.2:g.138945859_138945881dup GRCh38
NC_000003.11:g.138664701_138664723dup , CM000665.1:g.138664701_138664723dup GRCh37
NC_000003.10:g.140147391_140147413dup NCBI36
NG_012454.1:g.6261_6283dup
NG_029796.1:g.3626_3648dup

Transcript Alleles

HGVS Amino-acid change
ENST00000648323.1:c.843_865dup MANE Select ENSP00000497217.1:p.His289ArgfsTer?
ENST00000330315.3:c.843_865dup ENSP00000333188.3:p.His289ArgfsTer?
NM_023067.3:c.843_865dup NP_075555.1:p.His289ArgfsTer?
NM_023067.4:c.843_865dup MANE Select NP_075555.1:p.His289ArgfsTer?
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