Canonical Allele Identifier: CA83969740
Gene: FOXL2 HGNC NCBI

Linked Data

dbSNP Id: rs1045933002
gnomAD v2: 3-138664717-G-A
gnomAD v3: 3-138945875-G-A
gnomAD v4: 3-138945875-G-A
MyVariant Identifiers: chr3:g.138664717G>A (hg19) chr3:g.138945875G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138945875G>A , CM000665.2:g.138945875G>A GRCh38
NC_000003.11:g.138664717G>A , CM000665.1:g.138664717G>A GRCh37
NC_000003.10:g.140147407G>A NCBI36
NG_012454.1:g.6266C>T
NG_029796.1:g.3642G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.848C>T MANE Select ENSP00000497217.1:p.Ala283Val
ENST00000330315.3:c.848C>T ENSP00000333188.3:p.Ala283Val
NM_023067.3:c.848C>T NP_075555.1:p.Ala283Val
NM_023067.4:c.848C>T MANE Select NP_075555.1:p.Ala283Val
Search 100 bp 5'
Search 100 bp 3'