Canonical Allele Identifier: CA10462797
Gene: POU3F4 HGNC NCBI

Linked Data

ClinVar Variation Id: 504940
ClinVar RCV Id: RCV000603619 RCV001672893
dbSNP Id: rs781092151
ExAC: X:82763987 C / T
gnomAD v2: X-82763987-C-T
gnomAD v3: X-83508979-C-T
gnomAD v4: X-83508979-C-T
MyVariant Identifiers: chrX:g.82763987C>T (hg19) chrX:g.83508979C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.83508979C>T , CM000685.2:g.83508979C>T GRCh38
NC_000023.10:g.82763987C>T , CM000685.1:g.82763987C>T GRCh37
NC_000023.9:g.82650643C>T NCBI36
NG_009936.2:g.5719C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000644024.2:c.655C>T MANE Select ENSP00000495996.1:p.Leu219=
ENST00000373200.4:c.655C>T ENSP00000362296.2:p.Leu219=
NM_000307.4:c.655C>T NP_000298.3:p.Leu219=
NM_000307.5:c.655C>T MANE Select NP_000298.3:p.Leu219=
Search 100 bp 5'
Search 100 bp 3'