Canonical Allele Identifier: CA2639749

Gene: FOXL2

Linked Data

• ClinVar Variation Id: 1186389
• ClinVar RCV Id: RCV001545465 ; RCV002568959
• dbSNP Id: rs750300712
• ExAC: 3:138664931 G / C
• gnomAD v2: 3-138664931-G-C
• gnomAD v3: 3-138946089-G-C
• gnomAD v4: 3-138946089-G-C
• MyVariant Identifiers: chr3:g.138664931G>C (hg19) ; chr3:g.138946089G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138946089G>C , CM000665.2:g.138946089G>C	GRCh38
NC_000003.11:g.138664931G>C , CM000665.1:g.138664931G>C	GRCh37
NC_000003.10:g.140147621G>C	NCBI36
NG_012454.1:g.6052C>G
NG_029796.1:g.3856G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648323.1:c.634C>G MANE Select	ENSP00000497217.1:p.Pro212Ala
ENST00000330315.3:c.634C>G	ENSP00000333188.3:p.Pro212Ala
NM_023067.3:c.634C>G	NP_075555.1:p.Pro212Ala
NM_023067.4:c.634C>G MANE Select	NP_075555.1:p.Pro212Ala