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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:
CA132466
Gene: POU3F4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
43354
ClinVar RCV Id:
RCV000036262
dbSNP Id:
rs111033291
MyVariant Identifiers:
chrX:g.82764296G>A (hg19)
chrX:g.83509288G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.83509288G>A , CM000685.2:g.83509288G>A
GRCh38
NC_000023.10:g.82764296G>A , CM000685.1:g.82764296G>A
GRCh37
NC_000023.9:g.82650952G>A
NCBI36
NG_009936.2:g.6028G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000644024.2:c.964G>A
MANE Select
ENSP00000495996.1:p.Val322Met
ENST00000373200.4:c.964G>A
ENSP00000362296.2:p.Val322Met
NM_000307.4:c.964G>A
NP_000298.3:p.Val322Met
NM_000307.5:c.964G>A
MANE Select
NP_000298.3:p.Val322Met
Search 100 bp 5'
Search 100 bp 3'