Canonical Allele Identifier: CA10652100
Gene: POF1B HGNC NCBI

Linked Data

ClinVar Variation Id: 368765
ClinVar RCV Id: RCV000267025 RCV000292246
dbSNP Id: rs7062790
gnomAD v2: X-84533254-G-T
gnomAD v3: X-85278248-G-T
gnomAD v4: X-85278248-G-T
MyVariant Identifiers: chrX:g.84533254G>T (hg19) chrX:g.85278248G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85278248G>T , CM000685.2:g.85278248G>T GRCh38
NC_000023.10:g.84533254G>T , CM000685.1:g.84533254G>T GRCh37
NC_000023.9:g.84419910G>T NCBI36
NG_016358.1:g.106495C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262753.9:c.*1173C>A MANE Select ENSP00000262753.4:n.*1173C>A
ENST00000262753.8:c.*1173C>A ENSP00000262753.4:n.*1173C>A
NM_024921.3:c.*1173C>A NP_079197.3:n.*1173C>A
XM_005262203.2:c.*1173C>A XP_005262260.1:n.*1173C>A
XM_005262203.4:c.*1173C>A XP_005262260.1:n.*1173C>A
NM_024921.4:c.*1173C>A MANE Select NP_079197.3:n.*1173C>A
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