Canonical Allele Identifier: CA10586850
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 261663
ClinVar RCV Id: RCV000246314
dbSNP Id: rs886038680
gnomAD v3: 3-138945904-C-G
gnomAD v4: 3-138945904-C-G
MyVariant Identifiers: chr3:g.138664746C>G (hg19) chr3:g.138945904C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138945904C>G , CM000665.2:g.138945904C>G GRCh38
NC_000003.11:g.138664746C>G , CM000665.1:g.138664746C>G GRCh37
NC_000003.10:g.140147436C>G NCBI36
NG_012454.1:g.6237G>C
NG_029796.1:g.3671C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.819G>C MANE Select ENSP00000497217.1:p.Ser273=
ENST00000330315.3:c.819G>C ENSP00000333188.3:p.Ser273=
NM_023067.3:c.819G>C NP_075555.1:p.Ser273=
NM_023067.4:c.819G>C MANE Select NP_075555.1:p.Ser273=
Search 100 bp 5'
Search 100 bp 3'