Canonical Allele Identifier: CA255378
Gene: F9 HGNC NCBI
ClinGen Evidence Repository:
Classification Likely Pathogenic
Condition hemophilia B
VCEP Coagulation Factor Deficiency VCEP
MyVariant.info:
GRCh38 chrX:g.139561694G>C
GRCh37 chrX:g.138643853G>C
Revel Score:
ENST00000218099 (MANE Select) 0.617
ENST00000394090 0.617
ClinVar RCV:
RCV000011352
ClinVar Variation:
10606
dbSNP:
137852253
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139561694G>C , CM000685.2:g.139561694G>C GRCh38
NC_000023.10:g.138643853G>C , CM000685.1:g.138643853G>C GRCh37
NC_000023.9:g.138471519G>C NCBI36
NG_007994.1:g.35959G>C , LRG_556:g.35959G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218099.7:c.1009G>C MANE Select ENSP00000218099.2:p.Ala337Pro
ENST00000643157.1:n.1676G>C
ENST00000218099.6:c.1009G>C ENSP00000218099.2:p.Ala337Pro
ENST00000394090.2:c.895G>C ENSP00000377650.2:p.Ala299Pro
NM_000133.3:c.1009G>C , LRG_556t1:c.1009G>C NP_000124.1:p.Ala337Pro
NM_001313913.1:c.895G>C NP_001300842.1:p.Ala299Pro
XM_005262397.3:c.880G>C XP_005262454.1:p.Ala294Pro
XM_005262397.4:c.880G>C XP_005262454.1:p.Ala294Pro
NM_000133.4:c.1009G>C MANE Select NP_000124.1:p.Ala337Pro
NM_001313913.2:c.895G>C NP_001300842.1:p.Ala299Pro
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