Canonical Allele Identifier: CA117108

Gene: FOXL2

Linked Data

• ClinVar Variation Id: 4869
• ClinVar RCV Id: RCV000005145 ; RCV000987342
• dbSNP Id: rs28937885
• ExAC: 3:138664793 A / T
• gnomAD v2: 3-138664793-A-T
• gnomAD v3: 3-138945951-A-T
• gnomAD v4: 3-138945951-A-T
• MyVariant Identifiers: chr3:g.138664793A>T (hg19) ; chr3:g.138945951A>T (hg38)
• PubMed: PMID:12149404

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138945951A>T , CM000665.2:g.138945951A>T	GRCh38
NC_000003.11:g.138664793A>T , CM000665.1:g.138664793A>T	GRCh37
NC_000003.10:g.140147483A>T	NCBI36
NG_012454.1:g.6190T>A
NG_029796.1:g.3718A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648323.1:c.772T>A MANE Select	ENSP00000497217.1:p.Tyr258Asn
ENST00000330315.3:c.772T>A	ENSP00000333188.3:p.Tyr258Asn
NM_023067.3:c.772T>A	NP_075555.1:p.Tyr258Asn
NM_023067.4:c.772T>A MANE Select	NP_075555.1:p.Tyr258Asn