Canonical Allele Identifier: CA414438824
Gene: F9 HGNC NCBI
ClinGen Evidence Repository:
Classification Likely Pathogenic
Condition hemophilia B
VCEP Coagulation Factor Deficiency VCEP
MyVariant.info:
GRCh38 chrX:g.139548378T>C
GRCh37 chrX:g.138630537T>C
Revel Score:
ENST00000218099 (MANE Select) 0.634
ENST00000394090 0.634
ClinVar RCV:
RCV000851938
ClinVar Variation:
627177
dbSNP:
1603265481
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139548378T>C , CM000685.2:g.139548378T>C GRCh38
NC_000023.10:g.138630537T>C , CM000685.1:g.138630537T>C GRCh37
NC_000023.9:g.138458203T>C NCBI36
NG_007994.1:g.22643T>C , LRG_556:g.22643T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218099.7:c.407T>C MANE Select ENSP00000218099.2:p.Ile136Thr
ENST00000643157.1:n.1074T>C
ENST00000218099.6:c.407T>C ENSP00000218099.2:p.Ile136Thr
ENST00000394090.2:c.293T>C ENSP00000377650.2:p.Ile98Thr
ENST00000479617.2:n.360T>C
NM_000133.3:c.407T>C , LRG_556t1:c.407T>C NP_000124.1:p.Ile136Thr
NM_001313913.1:c.293T>C NP_001300842.1:p.Ile98Thr
XM_005262397.3:c.392-2684T>C XP_005262454.1:n.392-2684T>C
XM_005262397.4:c.392-2684T>C XP_005262454.1:n.392-2684T>C
NM_000133.4:c.407T>C MANE Select NP_000124.1:p.Ile136Thr
NM_001313913.2:c.293T>C NP_001300842.1:p.Ile98Thr
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