Canonical Allele Identifier: CA354704899
Gene: FOXL2 HGNC NCBI

Linked Data

dbSNP Id: rs2107743904
gnomAD v4: 3-138946107-G-T
MyVariant Identifiers: chr3:g.138664949G>T (hg19) chr3:g.138946107G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138946107G>T , CM000665.2:g.138946107G>T GRCh38
NC_000003.11:g.138664949G>T , CM000665.1:g.138664949G>T GRCh37
NC_000003.10:g.140147639G>T NCBI36
NG_012454.1:g.6034C>A
NG_029796.1:g.3874G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.616C>A MANE Select ENSP00000497217.1:p.Leu206Ile
ENST00000330315.3:c.616C>A ENSP00000333188.3:p.Leu206Ile
NM_023067.3:c.616C>A NP_075555.1:p.Leu206Ile
NM_023067.4:c.616C>A MANE Select NP_075555.1:p.Leu206Ile
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