Canonical Allele Identifier: CA213134
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4867
ClinVar RCV Id: RCV000005143
dbSNP Id: rs863225453

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138945766dup , CM000665.2:g.138945766dup GRCh38
NC_000003.11:g.138664608dup , CM000665.1:g.138664608dup GRCh37
NC_000003.10:g.140147298dup NCBI36
NG_012454.1:g.6377dup
NG_029796.1:g.3533dup

Transcript Alleles

HGVS Amino-acid change
ENST00000648323.1:c.959dup MANE Select ENSP00000497217.1:p.Gln321ProfsTer?
ENST00000330315.3:c.959dup ENSP00000333188.3:p.Gln321ProfsTer?
NM_023067.3:c.959dup NP_075555.1:p.Gln321ProfsTer?
NM_023067.4:c.959dup MANE Select NP_075555.1:p.Gln321ProfsTer?