Canonical Allele Identifier: CA10462754
Gene: POU3F4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1120056
ClinVar RCV Id: RCV001449684
dbSNP Id: rs370722742
ExAC: X:82763581 C / A
gnomAD v2: X-82763581-C-A
gnomAD v3: X-83508573-C-A
gnomAD v4: X-83508573-C-A
MyVariant Identifiers: chrX:g.82763581C>A (hg19) chrX:g.83508573C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.83508573C>A , CM000685.2:g.83508573C>A GRCh38
NC_000023.10:g.82763581C>A , CM000685.1:g.82763581C>A GRCh37
NC_000023.9:g.82650237C>A NCBI36
NG_009936.2:g.5313C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644024.2:c.249C>A MANE Select ENSP00000495996.1:p.Pro83=
ENST00000373200.4:c.249C>A ENSP00000362296.2:p.Pro83=
NM_000307.4:c.249C>A NP_000298.3:p.Pro83=
NM_000307.5:c.249C>A MANE Select NP_000298.3:p.Pro83=
Search 100 bp 5'
Search 100 bp 3'