Canonical Allele Identifier: CA83969233
Gene: FOXL2 HGNC NCBI

Linked Data

dbSNP Id: rs1048558809
gnomAD v3: 3-138945378-A-G
gnomAD v4: 3-138945378-A-G
MyVariant Identifiers: chr3:g.138664220A>G (hg19) chr3:g.138945378A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138945378A>G , CM000665.2:g.138945378A>G GRCh38
NC_000003.11:g.138664220A>G , CM000665.1:g.138664220A>G GRCh37
NC_000003.10:g.140146910A>G NCBI36
NG_012454.1:g.6763T>C
NG_029796.1:g.3145A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.*214T>C MANE Select ENSP00000497217.1:n.*214T>C
ENST00000330315.3:c.*214T>C ENSP00000333188.3:n.*214T>C
NM_023067.3:c.*214T>C NP_075555.1:n.*214T>C
NM_023067.4:c.*214T>C MANE Select NP_075555.1:n.*214T>C
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