Canonical Allele Identifier: CA10462794
Gene: POU3F4 HGNC NCBI

Linked Data

ClinVar Variation Id: 913163
ClinVar RCV Id: RCV001166662
dbSNP Id: rs202020213
ExAC: X:82763917 A / G
gnomAD v2: X-82763917-A-G
gnomAD v3: X-83508909-A-G
gnomAD v4: X-83508909-A-G
MyVariant Identifiers: chrX:g.82763917A>G (hg19) chrX:g.83508909A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.83508909A>G , CM000685.2:g.83508909A>G GRCh38
NC_000023.10:g.82763917A>G , CM000685.1:g.82763917A>G GRCh37
NC_000023.9:g.82650573A>G NCBI36
NG_009936.2:g.5649A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000644024.2:c.585A>G MANE Select ENSP00000495996.1:p.Glu195=
ENST00000373200.4:c.585A>G ENSP00000362296.2:p.Glu195=
NM_000307.4:c.585A>G NP_000298.3:p.Glu195=
NM_000307.5:c.585A>G MANE Select NP_000298.3:p.Glu195=
Search 100 bp 5'
Search 100 bp 3'