Canonical Allele Identifier: CA899581501
Gene: FOXL2 HGNC NCBI

Linked Data

dbSNP Id: rs1240744650
gnomAD v4: 3-138945479-C-G
MyVariant Identifiers: chr3:g.138664321C>G (hg19) chr3:g.138945479C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138945479C>G , CM000665.2:g.138945479C>G GRCh38
NC_000003.11:g.138664321C>G , CM000665.1:g.138664321C>G GRCh37
NC_000003.10:g.140147011C>G NCBI36
NG_012454.1:g.6662G>C
NG_029796.1:g.3246C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.*113G>C MANE Select ENSP00000497217.1:n.*113G>C
ENST00000330315.3:c.*113G>C ENSP00000333188.3:n.*113G>C
NM_023067.3:c.*113G>C NP_075555.1:n.*113G>C
NM_023067.4:c.*113G>C MANE Select NP_075555.1:n.*113G>C
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