Canonical Allele Identifier: CA210684

Gene: FOXL2

Linked Data

• ClinVar Variation Id: 4861
• ClinVar RCV Id: RCV000005136 ; RCV000005137 ; RCV002496265
• dbSNP Id: rs104893738
• gnomAD v4: 3-138945901-G-C
• MyVariant Identifiers: chr3:g.138664743G>C (hg19) ; chr3:g.138945901G>C (hg38)
• PubMed: PMID:12529855

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138945901G>C , CM000665.2:g.138945901G>C	GRCh38
NC_000003.11:g.138664743G>C , CM000665.1:g.138664743G>C	GRCh37
NC_000003.10:g.140147433G>C	NCBI36
NG_012454.1:g.6240C>G
NG_029796.1:g.3668G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000648323.1:c.822C>G MANE Select	ENSP00000497217.1:p.Tyr274Ter
ENST00000330315.3:c.822C>G	ENSP00000333188.3:p.Tyr274Ter
NM_023067.3:c.822C>G	NP_075555.1:p.Tyr274Ter
NM_023067.4:c.822C>G MANE Select	NP_075555.1:p.Tyr274Ter