Canonical Allele Identifier: CA354704063
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 634979
ClinVar RCV Id: RCV000785854
dbSNP Id: rs767088367
gnomAD v4: 3-138946005-C-A
MyVariant Identifiers: chr3:g.138664847C>A (hg19) chr3:g.138946005C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138946005C>A , CM000665.2:g.138946005C>A GRCh38
NC_000003.11:g.138664847C>A , CM000665.1:g.138664847C>A GRCh37
NC_000003.10:g.140147537C>A NCBI36
NG_012454.1:g.6136G>T
NG_029796.1:g.3772C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.718G>T MANE Select ENSP00000497217.1:p.Gly240Cys
ENST00000330315.3:c.718G>T ENSP00000333188.3:p.Gly240Cys
NM_023067.3:c.718G>T NP_075555.1:p.Gly240Cys
NM_023067.4:c.718G>T MANE Select NP_075555.1:p.Gly240Cys
Search 100 bp 5'
Search 100 bp 3'