Canonical Allele Identifier: CA413750708
Gene: POU3F4 HGNC NCBI

Linked Data

dbSNP Id: rs1189457059
gnomAD v3: X-83508382-G-A
gnomAD v4: X-83508382-G-A
COSMIC: COSM1125918
MyVariant Identifiers: chrX:g.82763390G>A (hg19) chrX:g.83508382G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.83508382G>A , CM000685.2:g.83508382G>A GRCh38
NC_000023.10:g.82763390G>A , CM000685.1:g.82763390G>A GRCh37
NC_000023.9:g.82650046G>A NCBI36
NG_009936.2:g.5122G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644024.2:c.58G>A MANE Select ENSP00000495996.1:p.Ala20Thr
ENST00000373200.4:c.58G>A ENSP00000362296.2:p.Ala20Thr
NM_000307.4:c.58G>A NP_000298.3:p.Ala20Thr
NM_000307.5:c.58G>A MANE Select NP_000298.3:p.Ala20Thr
Search 100 bp 5'
Search 100 bp 3'