Canonical Allele Identifier: CA117108
Gene: FOXL2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.138945951A>T
GRCh37 chr3:g.138664793A>T
Revel Score:
ENST00000330315 0.613
gnomAD v2:
3:138664793 A / T
gnomAD v3:
3:138945951 A / T
gnomAD v4:
chr3-138945951-A-T
Joint Max Group AF 0.00000314 (NFE)
Exomes Max Group AF 0.00000284 (NFE)
ClinVar RCV:
RCV000005145
RCV000987342
ClinVar Variation:
4869
dbSNP:
28937885
JSON-LD

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'