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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
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Canonical Allele Identifier:
CA354706443
Gene: FOXL2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1057516160
MyVariant Identifiers:
chr3:g.138665176A>C (hg19)
chr3:g.138946334A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138946334A>C , CM000665.2:g.138946334A>C
GRCh38
NC_000003.11:g.138665176A>C , CM000665.1:g.138665176A>C
GRCh37
NC_000003.10:g.140147866A>C
NCBI36
NG_012454.1:g.5807T>G
NG_029796.1:g.4101A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000648323.1:c.389T>G
MANE Select
ENSP00000497217.1:p.Leu130Arg
ENST00000330315.3:c.389T>G
ENSP00000333188.3:p.Leu130Arg
NM_023067.3:c.389T>G
NP_075555.1:p.Leu130Arg
NM_023067.4:c.389T>G
MANE Select
NP_075555.1:p.Leu130Arg
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