Canonical Allele Identifier: CA354701709
Gene: FOXL2 HGNC NCBI

Linked Data

dbSNP Id: rs1935947106
gnomAD v4: 3-138945783-C-T
MyVariant Identifiers: chr3:g.138664625C>T (hg19) chr3:g.138945783C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138945783C>T , CM000665.2:g.138945783C>T GRCh38
NC_000003.11:g.138664625C>T , CM000665.1:g.138664625C>T GRCh37
NC_000003.10:g.140147315C>T NCBI36
NG_012454.1:g.6358G>A
NG_029796.1:g.3550C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.940G>A MANE Select ENSP00000497217.1:p.Ala314Thr
ENST00000330315.3:c.940G>A ENSP00000333188.3:p.Ala314Thr
NM_023067.3:c.940G>A NP_075555.1:p.Ala314Thr
NM_023067.4:c.940G>A MANE Select NP_075555.1:p.Ala314Thr
Search 100 bp 5'
Search 100 bp 3'