Canonical Allele Identifier: CA332228385
Gene: POU3F4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2660990
ClinVar RCV Id: RCV003430582
dbSNP Id: rs377423111
gnomAD v2: X-82763800-C-T
gnomAD v3: X-83508792-C-T
gnomAD v4: X-83508792-C-T
MyVariant Identifiers: chrX:g.82763800C>T (hg19) chrX:g.83508792C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.83508792C>T , CM000685.2:g.83508792C>T GRCh38
NC_000023.10:g.82763800C>T , CM000685.1:g.82763800C>T GRCh37
NC_000023.9:g.82650456C>T NCBI36
NG_009936.2:g.5532C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644024.2:c.468C>T MANE Select ENSP00000495996.1:p.Ala156=
ENST00000373200.4:c.468C>T ENSP00000362296.2:p.Ala156=
NM_000307.4:c.468C>T NP_000298.3:p.Ala156=
NM_000307.5:c.468C>T MANE Select NP_000298.3:p.Ala156=
Search 100 bp 5'
Search 100 bp 3'