Canonical Allele Identifier: CA10654875

Gene: FOXL2

Linked Data

• ClinVar Variation Id: 369920
• ClinVar RCV Id: RCV000408834
• dbSNP Id: rs565208053
• gnomAD v2: 3-138664918-G-A
• gnomAD v3: 3-138946076-G-A
• gnomAD v4: 3-138946076-G-A
• MyVariant Identifiers: chr3:g.138664918G>A (hg19) ; chr3:g.138946076G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138946076G>A , CM000665.2:g.138946076G>A	GRCh38
NC_000003.11:g.138664918G>A , CM000665.1:g.138664918G>A	GRCh37
NC_000003.10:g.140147608G>A	NCBI36
NG_012454.1:g.6065C>T
NG_029796.1:g.3843G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648323.1:c.647C>T MANE Select	ENSP00000497217.1:p.Ala216Val
ENST00000330315.3:c.647C>T	ENSP00000333188.3:p.Ala216Val
NM_023067.3:c.647C>T	NP_075555.1:p.Ala216Val
NM_023067.4:c.647C>T MANE Select	NP_075555.1:p.Ala216Val