Canonical Allele Identifier: CA2639748
Gene: FOXL2 HGNC NCBI

Linked Data

dbSNP Id: rs545210276
ExAC: 3:138664911 G / A
gnomAD v2: 3-138664911-G-A
gnomAD v3: 3-138946069-G-A
gnomAD v4: 3-138946069-G-A
MyVariant Identifiers: chr3:g.138664911G>A (hg19) chr3:g.138946069G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138946069G>A , CM000665.2:g.138946069G>A GRCh38
NC_000003.11:g.138664911G>A , CM000665.1:g.138664911G>A GRCh37
NC_000003.10:g.140147601G>A NCBI36
NG_012454.1:g.6072C>T
NG_029796.1:g.3836G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.654C>T MANE Select ENSP00000497217.1:p.Cys218=
ENST00000330315.3:c.654C>T ENSP00000333188.3:p.Cys218=
NM_023067.3:c.654C>T NP_075555.1:p.Cys218=
NM_023067.4:c.654C>T MANE Select NP_075555.1:p.Cys218=
Search 100 bp 5'
Search 100 bp 3'