Canonical Allele Identifier: CA414434500
Gene: F9 HGNC NCBI
ClinGen Evidence Repository:
Classification Likely Pathogenic
Condition hemophilia B
VCEP Coagulation Factor Deficiency VCEP
MyVariant.info:
GRCh38 chrX:g.139530852G>A
GRCh37 chrX:g.138613011G>A
Revel Score:
ENST00000218099 (MANE Select) 0.787
ENST00000394090 0.787
ClinVar Allele:
649734
ClinVar RCV:
RCV000806960
ClinVar Variation:
651569
dbSNP:
1603263395
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139530852G>A , CM000685.2:g.139530852G>A GRCh38
NC_000023.10:g.138613011G>A , CM000685.1:g.138613011G>A GRCh37
NC_000023.9:g.138440677G>A NCBI36
NG_007994.1:g.5117G>A , LRG_556:g.5117G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218099.7:c.88G>A MANE Select ENSP00000218099.2:p.Val30Ile
ENST00000218099.6:c.88G>A ENSP00000218099.2:p.Val30Ile
ENST00000394090.2:c.88G>A ENSP00000377650.2:p.Val30Ile
ENST00000479617.2:n.95G>A
NM_000133.3:c.88G>A , LRG_556t1:c.88G>A NP_000124.1:p.Val30Ile
NM_001313913.1:c.88G>A NP_001300842.1:p.Val30Ile
XM_005262397.3:c.88G>A XP_005262454.1:p.Val30Ile
XM_005262397.4:c.88G>A XP_005262454.1:p.Val30Ile
NM_000133.4:c.88G>A MANE Select NP_000124.1:p.Val30Ile
NM_001313913.2:c.88G>A NP_001300842.1:p.Val30Ile
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