Canonical Allele Identifier: CA413752468
Gene: POU3F4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2692317
ClinVar RCV Id: RCV003494514
MyVariant Identifiers: chrX:g.82764186T>C (hg19) chrX:g.83509178T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.83509178T>C , CM000685.2:g.83509178T>C GRCh38
NC_000023.10:g.82764186T>C , CM000685.1:g.82764186T>C GRCh37
NC_000023.9:g.82650842T>C NCBI36
NG_009936.2:g.5918T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000644024.2:c.854T>C MANE Select ENSP00000495996.1:p.Ile285Thr
ENST00000373200.4:c.854T>C ENSP00000362296.2:p.Ile285Thr
NM_000307.4:c.854T>C NP_000298.3:p.Ile285Thr
NM_000307.5:c.854T>C MANE Select NP_000298.3:p.Ile285Thr
Search 100 bp 5'
Search 100 bp 3'