Canonical Allele Identifier: CA354706445
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2499735
ClinVar RCV Id: RCV003223827
MyVariant Identifiers: chr3:g.138665177G>C (hg19) chr3:g.138946335G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138946335G>C , CM000665.2:g.138946335G>C GRCh38
NC_000003.11:g.138665177G>C , CM000665.1:g.138665177G>C GRCh37
NC_000003.10:g.140147867G>C NCBI36
NG_012454.1:g.5806C>G
NG_029796.1:g.4102G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.388C>G MANE Select ENSP00000497217.1:p.Leu130Val
ENST00000330315.3:c.388C>G ENSP00000333188.3:p.Leu130Val
NM_023067.3:c.388C>G NP_075555.1:p.Leu130Val
NM_023067.4:c.388C>G MANE Select NP_075555.1:p.Leu130Val
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