Canonical Allele Identifier: CA117108
Gene: FOXL2 HGNC NCBI

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
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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
Search 100 bp 5'
Search 100 bp 3'