Canonical Allele Identifier: CA436094505
Gene: FOXL2 HGNC NCBI

Linked Data

dbSNP Id: rs1935978369
gnomAD v4: 3-138946576-C-T
MyVariant Identifiers: chr3:g.138665418C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138946576C>T , CM000665.2:g.138946576C>T GRCh38
NC_000003.11:g.138665418C>T , CM000665.1:g.138665418C>T GRCh37
NC_000003.10:g.140148108C>T NCBI36
NG_012454.1:g.5565G>A
NG_029796.1:g.4343C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.147G>A MANE Select ENSP00000497217.1:p.Pro49=
ENST00000330315.3:c.147G>A ENSP00000333188.3:p.Pro49=
NM_023067.3:c.147G>A NP_075555.1:p.Pro49=
NM_023067.4:c.147G>A MANE Select NP_075555.1:p.Pro49=
Search 100 bp 5'
Search 100 bp 3'