Canonical Allele Identifier: CA10654876

Gene: FOXL2

Linked Data

• ClinVar Variation Id: 369919
• ClinVar RCV Id: RCV000408786 ; RCV000523621 ; RCV003392224
• dbSNP Id: rs1057516168
• gnomAD v4: 3-138946079-T-C
• MyVariant Identifiers: chr3:g.138664921T>C (hg19) ; chr3:g.138946079T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138946079T>C , CM000665.2:g.138946079T>C	GRCh38
NC_000003.11:g.138664921T>C , CM000665.1:g.138664921T>C	GRCh37
NC_000003.10:g.140147611T>C	NCBI36
NG_012454.1:g.6062A>G
NG_029796.1:g.3846T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648323.1:c.644A>G MANE Select	ENSP00000497217.1:p.Tyr215Cys
ENST00000330315.3:c.644A>G	ENSP00000333188.3:p.Tyr215Cys
NM_023067.3:c.644A>G	NP_075555.1:p.Tyr215Cys
NM_023067.4:c.644A>G MANE Select	NP_075555.1:p.Tyr215Cys