Canonical Allele Identifier: CA354707739
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2300358
ClinVar RCV Id: RCV002865936
dbSNP Id: rs104893737
gnomAD v4: 3-138946566-G-T
COSMIC: COSM5806276
MyVariant Identifiers: chr3:g.138665408G>T (hg19) chr3:g.138946566G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138946566G>T , CM000665.2:g.138946566G>T GRCh38
NC_000003.11:g.138665408G>T , CM000665.1:g.138665408G>T GRCh37
NC_000003.10:g.140148098G>T NCBI36
NG_012454.1:g.5575C>A
NG_029796.1:g.4333G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000648323.1:c.157C>A MANE Select ENSP00000497217.1:p.Gln53Lys
ENST00000330315.3:c.157C>A ENSP00000333188.3:p.Gln53Lys
NM_023067.3:c.157C>A NP_075555.1:p.Gln53Lys
NM_023067.4:c.157C>A MANE Select NP_075555.1:p.Gln53Lys
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