Canonical Allele Identifier: CA347077
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 180600
ClinVar RCV Id: RCV000192039
dbSNP Id: rs797044531
gnomAD v4: 3-138945868-CG-C
MyVariant Identifiers: chr3:g.138664711del (hg19) chr3:g.138945869del (hg38)
PubMed: PMID:20301614
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138945873del , CM000665.2:g.138945873del GRCh38
NC_000003.11:g.138664715del , CM000665.1:g.138664715del GRCh37
NC_000003.10:g.140147405del NCBI36
NG_012454.1:g.6272del
NG_029796.1:g.3640del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.854del MANE Select ENSP00000497217.1:p.Pro285ArgfsTer?
ENST00000330315.3:c.854del ENSP00000333188.3:p.Pro285ArgfsTer?
NM_023067.3:c.854del NP_075555.1:p.Pro285ArgfsTer?
NM_023067.4:c.854del MANE Select NP_075555.1:p.Pro285ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'