Canonical Allele Identifier: CA2639705
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2361547
ClinVar RCV Id: RCV002984021
dbSNP Id: rs777781753
ExAC: 3:138664571 G / C
gnomAD v2: 3-138664571-G-C
gnomAD v3: 3-138945729-G-C
gnomAD v4: 3-138945729-G-C
MyVariant Identifiers: chr3:g.138664571G>C (hg19) chr3:g.138945729G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138945729G>C , CM000665.2:g.138945729G>C GRCh38
NC_000003.11:g.138664571G>C , CM000665.1:g.138664571G>C GRCh37
NC_000003.10:g.140147261G>C NCBI36
NG_012454.1:g.6412C>G
NG_029796.1:g.3496G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.994C>G MANE Select ENSP00000497217.1:p.Pro332Ala
ENST00000330315.3:c.994C>G ENSP00000333188.3:p.Pro332Ala
NM_023067.3:c.994C>G NP_075555.1:p.Pro332Ala
NM_023067.4:c.994C>G MANE Select NP_075555.1:p.Pro332Ala
Search 100 bp 5'
Search 100 bp 3'