Canonical Allele Identifier: CA277507
Gene: F9 HGNC NCBI
ClinGen Evidence Repository:
Classification Pathogenic
Condition hemophilia B
VCEP Coagulation Factor Deficiency VCEP
COSMIC:
COSM1115965
MyVariant.info:
GRCh38 chrX:g.139560852G>A
GRCh37 chrX:g.138643011G>A
Revel Score:
ENST00000218099 (MANE Select) 0.765
ENST00000394090 0.765
gnomAD v4:
chrX-139560852-G-A
Joint Max Group AF 3.9e-7 (NFE)
Exomes Max Group AF 4.2e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139560852G>A , CM000685.2:g.139560852G>A GRCh38
NC_000023.10:g.138643011G>A , CM000685.1:g.138643011G>A GRCh37
NC_000023.9:g.138470677G>A NCBI36
NG_007994.1:g.35117G>A , LRG_556:g.35117G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218099.7:c.835G>A MANE Select ENSP00000218099.2:p.Ala279Thr
ENST00000643157.1:n.1502G>A
ENST00000218099.6:c.835G>A ENSP00000218099.2:p.Ala279Thr
ENST00000394090.2:c.721G>A ENSP00000377650.2:p.Ala241Thr
NM_000133.3:c.835G>A , LRG_556t1:c.835G>A NP_000124.1:p.Ala279Thr
NM_001313913.1:c.721G>A NP_001300842.1:p.Ala241Thr
XM_005262397.3:c.706G>A XP_005262454.1:p.Ala236Thr
XM_005262397.4:c.706G>A XP_005262454.1:p.Ala236Thr
NM_000133.4:c.835G>A MANE Select NP_000124.1:p.Ala279Thr
NM_001313913.2:c.721G>A NP_001300842.1:p.Ala241Thr
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