Canonical Allele Identifier: CA121125
Gene: F9 HGNC NCBI
ClinGen Classification:
Classification Benign
Condition hemophilia B
VCEP Coagulation Factor Deficiency VCEP
ClinVar RCV:
RCV000011334
RCV000244191
RCV000396693
RCV001521358
RCV001701639
RCV001810847
ClinVar Variation:
10588
COSMIC:
COSM1465968
dbSNP:
6048
gnomAD v2:
X:138633280 A / G
gnomAD v3:
X:139551121 A / G
gnomAD v4:
chrX-139551121-A-G
Joint Max Group AF 0.30124846 (NFE)
Genomes Max Group AF 0.30015256 (NFE)
Exomes Max Group AF 0.30110107 (NFE)
MyVariant.info:
GRCh38 chrX:g.139551121A>G
GRCh37 chrX:g.138633280A>G
Revel Score:
ENST00000218099 (MANE Select) 0.255
ENST00000394090 0.255
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139551121A>G , CM000685.2:g.139551121A>G GRCh38
NC_000023.10:g.138633280A>G , CM000685.1:g.138633280A>G GRCh37
NC_000023.9:g.138460946A>G NCBI36
NG_007994.1:g.25386A>G , LRG_556:g.25386A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218099.7:c.580A>G MANE Select ENSP00000218099.2:p.Thr194Ala
ENST00000643157.1:n.1247A>G
ENST00000218099.6:c.580A>G ENSP00000218099.2:p.Thr194Ala
ENST00000394090.2:c.466A>G ENSP00000377650.2:p.Thr156Ala
NM_000133.3:c.580A>G , LRG_556t1:c.580A>G NP_000124.1:p.Thr194Ala
NM_001313913.1:c.466A>G NP_001300842.1:p.Thr156Ala
XM_005262397.3:c.451A>G XP_005262454.1:p.Thr151Ala
XM_005262397.4:c.451A>G XP_005262454.1:p.Thr151Ala
NM_000133.4:c.580A>G MANE Select NP_000124.1:p.Thr194Ala
NM_001313913.2:c.466A>G NP_001300842.1:p.Thr156Ala
Search 100 bp 5'
Search 100 bp 3'