Canonical Allele Identifier: CA414446711
Gene: F9 HGNC NCBI
ClinGen Evidence Repository:
Classification Uncertain Significance
Condition hemophilia B
VCEP Coagulation Factor Deficiency VCEP
MyVariant.info:
GRCh38 chrX:g.139561920G>C
GRCh37 chrX:g.138644079G>C
Revel Score:
ENST00000218099 (MANE Select) 0.984
ENST00000394090 0.984
ClinVar Allele:
3401358
ClinVar RCV:
RCV004577667
ClinVar Variation:
3242382
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139561920G>C , CM000685.2:g.139561920G>C GRCh38
NC_000023.10:g.138644079G>C , CM000685.1:g.138644079G>C GRCh37
NC_000023.9:g.138471745G>C NCBI36
NG_007994.1:g.36185G>C , LRG_556:g.36185G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000218099.7:c.1235G>C MANE Select ENSP00000218099.2:p.Gly412Ala
ENST00000643157.1:n.1723+179G>C
ENST00000218099.6:c.1235G>C ENSP00000218099.2:p.Gly412Ala
ENST00000394090.2:c.1121G>C ENSP00000377650.2:p.Gly374Ala
NM_000133.3:c.1235G>C , LRG_556t1:c.1235G>C NP_000124.1:p.Gly412Ala
NM_001313913.1:c.1121G>C NP_001300842.1:p.Gly374Ala
XM_005262397.3:c.1106G>C XP_005262454.1:p.Gly369Ala
XM_005262397.4:c.1106G>C XP_005262454.1:p.Gly369Ala
NM_000133.4:c.1235G>C MANE Select NP_000124.1:p.Gly412Ala
NM_001313913.2:c.1121G>C NP_001300842.1:p.Gly374Ala
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