Canonical Allele Identifier: CA354702568
Gene: FOXL2 HGNC NCBI

Linked Data

dbSNP Id: rs1382669559
gnomAD v3: 3-138945848-G-A
gnomAD v4: 3-138945848-G-A
MyVariant Identifiers: chr3:g.138664690G>A (hg19) chr3:g.138945848G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138945848G>A , CM000665.2:g.138945848G>A GRCh38
NC_000003.11:g.138664690G>A , CM000665.1:g.138664690G>A GRCh37
NC_000003.10:g.140147380G>A NCBI36
NG_012454.1:g.6293C>T
NG_029796.1:g.3615G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.875C>T MANE Select ENSP00000497217.1:p.Pro292Leu
ENST00000330315.3:c.875C>T ENSP00000333188.3:p.Pro292Leu
NM_023067.3:c.875C>T NP_075555.1:p.Pro292Leu
NM_023067.4:c.875C>T MANE Select NP_075555.1:p.Pro292Leu
Search 100 bp 5'
Search 100 bp 3'