Canonical Allele Identifier: CA354706252
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2549623
ClinVar RCV Id: RCV003277589
dbSNP Id: rs2107744416
gnomAD v4: 3-138946296-A-G
MyVariant Identifiers: chr3:g.138665138A>G (hg19) chr3:g.138946296A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138946296A>G , CM000665.2:g.138946296A>G GRCh38
NC_000003.11:g.138665138A>G , CM000665.1:g.138665138A>G GRCh37
NC_000003.10:g.140147828A>G NCBI36
NG_012454.1:g.5845T>C
NG_029796.1:g.4063A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.427T>C MANE Select ENSP00000497217.1:p.Tyr143His
ENST00000330315.3:c.427T>C ENSP00000333188.3:p.Tyr143His
NM_023067.3:c.427T>C NP_075555.1:p.Tyr143His
NM_023067.4:c.427T>C MANE Select NP_075555.1:p.Tyr143His
Search 100 bp 5'
Search 100 bp 3'