Canonical Allele Identifier: CA354706466
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 634970
ClinVar RCV Id: RCV000785845
dbSNP Id: rs1559922472

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138946339C>T , CM000665.2:g.138946339C>T GRCh38
NC_000003.11:g.138665181C>T , CM000665.1:g.138665181C>T GRCh37
NC_000003.10:g.140147871C>T NCBI36
NG_012454.1:g.5802G>A
NG_029796.1:g.4106C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.384G>A MANE Select ENSP00000497217.1:p.Trp128Ter
ENST00000330315.3:c.384G>A ENSP00000333188.3:p.Trp128Ter
NM_023067.3:c.384G>A NP_075555.1:p.Trp128Ter
NM_023067.4:c.384G>A MANE Select NP_075555.1:p.Trp128Ter