Canonical Allele Identifier: CA159867

Gene: FOXL2

Linked Data

• ClinVar Variation Id: 134454
• ClinVar RCV Id: RCV000121136 ; RCV001657762
• dbSNP Id: rs201840174
• ExAC: 3:138664520 G / C
• gnomAD v2: 3-138664520-G-C
• gnomAD v3: 3-138945678-G-C
• gnomAD v4: 3-138945678-G-C
• MyVariant Identifiers: chr3:g.138664520G>C (hg19) ; chr3:g.138945678G>C (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138945678G>C , CM000665.2:g.138945678G>C	GRCh38
NC_000003.11:g.138664520G>C , CM000665.1:g.138664520G>C	GRCh37
NC_000003.10:g.140147210G>C	NCBI36
NG_012454.1:g.6463C>G
NG_029796.1:g.3445G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648323.1:c.1045C>G MANE Select	ENSP00000497217.1:p.Arg349Gly
ENST00000330315.3:c.1045C>G	ENSP00000333188.3:p.Arg349Gly
NM_023067.3:c.1045C>G	NP_075555.1:p.Arg349Gly
NM_023067.4:c.1045C>G MANE Select	NP_075555.1:p.Arg349Gly