Canonical Allele Identifier: CA10654885
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 369910
ClinVar RCV Id: RCV000408803
dbSNP Id: rs1057516160

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138946334A>T , CM000665.2:g.138946334A>T GRCh38
NC_000003.11:g.138665176A>T , CM000665.1:g.138665176A>T GRCh37
NC_000003.10:g.140147866A>T NCBI36
NG_012454.1:g.5807T>A
NG_029796.1:g.4101A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.389T>A MANE Select ENSP00000497217.1:p.Leu130Gln
ENST00000330315.3:c.389T>A ENSP00000333188.3:p.Leu130Gln
NM_023067.3:c.389T>A NP_075555.1:p.Leu130Gln
NM_023067.4:c.389T>A MANE Select NP_075555.1:p.Leu130Gln