Canonical Allele Identifier: CA354703930
Gene: FOXL2 HGNC NCBI

Linked Data

gnomAD v4: 3-138945986-T-C
MyVariant Identifiers: chr3:g.138664828T>C (hg19) chr3:g.138945986T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138945986T>C , CM000665.2:g.138945986T>C GRCh38
NC_000003.11:g.138664828T>C , CM000665.1:g.138664828T>C GRCh37
NC_000003.10:g.140147518T>C NCBI36
NG_012454.1:g.6155A>G
NG_029796.1:g.3753T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.737A>G MANE Select ENSP00000497217.1:p.Lys246Arg
ENST00000330315.3:c.737A>G ENSP00000333188.3:p.Lys246Arg
NM_023067.3:c.737A>G NP_075555.1:p.Lys246Arg
NM_023067.4:c.737A>G MANE Select NP_075555.1:p.Lys246Arg
Search 100 bp 5'
Search 100 bp 3'