Canonical Allele Identifier: CA354704258
Gene: FOXL2 HGNC NCBI

Linked Data

dbSNP Id: rs1274184824
gnomAD v2: 3-138664871-C-T
gnomAD v4: 3-138946029-C-T
MyVariant Identifiers: chr3:g.138664871C>T (hg19) chr3:g.138946029C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138946029C>T , CM000665.2:g.138946029C>T GRCh38
NC_000003.11:g.138664871C>T , CM000665.1:g.138664871C>T GRCh37
NC_000003.10:g.140147561C>T NCBI36
NG_012454.1:g.6112G>A
NG_029796.1:g.3796C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.694G>A MANE Select ENSP00000497217.1:p.Ala232Thr
ENST00000330315.3:c.694G>A ENSP00000333188.3:p.Ala232Thr
NM_023067.3:c.694G>A NP_075555.1:p.Ala232Thr
NM_023067.4:c.694G>A MANE Select NP_075555.1:p.Ala232Thr
Search 100 bp 5'
Search 100 bp 3'