×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA354707125
Gene: FOXL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
634960
ClinVar RCV Id:
RCV000785835
dbSNP Id:
rs1559922558
MyVariant Identifiers:
chr3:g.138665303A>T (hg19)
chr3:g.138946461A>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138946461A>T , CM000665.2:g.138946461A>T
GRCh38
NC_000003.11:g.138665303A>T , CM000665.1:g.138665303A>T
GRCh37
NC_000003.10:g.140147993A>T
NCBI36
NG_012454.1:g.5680T>A
NG_029796.1:g.4228A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000648323.1:c.262T>A
MANE Select
ENSP00000497217.1:p.Phe88Ile
ENST00000330315.3:c.262T>A
ENSP00000333188.3:p.Phe88Ile
NM_023067.3:c.262T>A
NP_075555.1:p.Phe88Ile
NM_023067.4:c.262T>A
MANE Select
NP_075555.1:p.Phe88Ile
Search 100 bp 5'
Search 100 bp 3'