Canonical Allele Identifier: CA255342
Gene: F9 HGNC NCBI
ClinGen Classification:
Classification Pathogenic
Condition hemophilia B
VCEP Coagulation Factor Deficiency VCEP
ClinVar RCV:
RCV000011331
RCV000851602
RCV001390296
RCV002247326
RCV002284168
ClinVar Variation:
10585
dbSNP:
137852238
gnomAD v2:
X:138633272 G / A
gnomAD v3:
X:139551113 G / A
gnomAD v4:
chrX-139551113-G-A
Joint Max Group AF 0.00000105 (NFE)
Exomes Max Group AF 9.5e-7 (NFE)
MyVariant.info:
GRCh38 chrX:g.139551113G>A
GRCh37 chrX:g.138633272G>A
Revel Score:
ENST00000218099 (MANE Select) 0.730
ENST00000394090 0.730
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139551113G>A , CM000685.2:g.139551113G>A GRCh38
NC_000023.10:g.138633272G>A , CM000685.1:g.138633272G>A GRCh37
NC_000023.9:g.138460938G>A NCBI36
NG_007994.1:g.25378G>A , LRG_556:g.25378G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218099.7:c.572G>A MANE Select ENSP00000218099.2:p.Arg191His
ENST00000643157.1:n.1239G>A
ENST00000218099.6:c.572G>A ENSP00000218099.2:p.Arg191His
ENST00000394090.2:c.458G>A ENSP00000377650.2:p.Arg153His
NM_000133.3:c.572G>A , LRG_556t1:c.572G>A NP_000124.1:p.Arg191His
NM_001313913.1:c.458G>A NP_001300842.1:p.Arg153His
XM_005262397.3:c.443G>A XP_005262454.1:p.Arg148His
XM_005262397.4:c.443G>A XP_005262454.1:p.Arg148His
NM_000133.4:c.572G>A MANE Select NP_000124.1:p.Arg191His
NM_001313913.2:c.458G>A NP_001300842.1:p.Arg153His
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