Canonical Allele Identifier: CA10462784
Gene: POU3F4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1803528
ClinVar RCV Id: RCV002467198
dbSNP Id: rs763166620
ExAC: X:82763822 C / T
gnomAD v2: X-82763822-C-T
gnomAD v3: X-83508814-C-T
gnomAD v4: X-83508814-C-T
MyVariant Identifiers: chrX:g.82763822C>T (hg19) chrX:g.83508814C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.83508814C>T , CM000685.2:g.83508814C>T GRCh38
NC_000023.10:g.82763822C>T , CM000685.1:g.82763822C>T GRCh37
NC_000023.9:g.82650478C>T NCBI36
NG_009936.2:g.5554C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644024.2:c.490C>T MANE Select ENSP00000495996.1:p.Pro164Ser
ENST00000373200.4:c.490C>T ENSP00000362296.2:p.Pro164Ser
NM_000307.4:c.490C>T NP_000298.3:p.Pro164Ser
NM_000307.5:c.490C>T MANE Select NP_000298.3:p.Pro164Ser
Search 100 bp 5'
Search 100 bp 3'