Canonical Allele Identifier: CA2639718
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2541757
ClinVar RCV Id: RCV003256799
dbSNP Id: rs759113804
ExAC: 3:138664735 A / G
gnomAD v2: 3-138664735-A-G
gnomAD v4: 3-138945893-A-G
MyVariant Identifiers: chr3:g.138664735A>G (hg19) chr3:g.138945893A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138945893A>G , CM000665.2:g.138945893A>G GRCh38
NC_000003.11:g.138664735A>G , CM000665.1:g.138664735A>G GRCh37
NC_000003.10:g.140147425A>G NCBI36
NG_012454.1:g.6248T>C
NG_029796.1:g.3660A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.830T>C MANE Select ENSP00000497217.1:p.Leu277Pro
ENST00000330315.3:c.830T>C ENSP00000333188.3:p.Leu277Pro
NM_023067.3:c.830T>C NP_075555.1:p.Leu277Pro
NM_023067.4:c.830T>C MANE Select NP_075555.1:p.Leu277Pro
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