Canonical Allele Identifier: CA253317
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 4865
ClinVar RCV Id: RCV000005141
dbSNP Id: rs104893739

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138946137G>A , CM000665.2:g.138946137G>A GRCh38
NC_000003.11:g.138664979G>A , CM000665.1:g.138664979G>A GRCh37
NC_000003.10:g.140147669G>A NCBI36
NG_012454.1:g.6004C>T
NG_029796.1:g.3904G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000648323.1:c.586C>T MANE Select ENSP00000497217.1:p.Gln196Ter
ENST00000330315.3:c.586C>T ENSP00000333188.3:p.Gln196Ter
NM_023067.3:c.586C>T NP_075555.1:p.Gln196Ter
NM_023067.4:c.586C>T MANE Select NP_075555.1:p.Gln196Ter