Canonical Allele Identifier: CA10529780
Gene: F9 HGNC NCBI
ClinGen Evidence Repository:
Classification Benign
Condition hemophilia B
VCEP Coagulation Factor Deficiency VCEP
MyVariant.info:
GRCh38 chrX:g.139541196A>G
GRCh37 chrX:g.138623355A>G
gnomAD v2:
X:138623355 A / G
gnomAD v3:
X:139541196 A / G
gnomAD v4:
chrX-139541196-A-G
Joint Max Group AF 0.13112882 (AFR)
Genomes Max Group AF 0.12110936 (AFR)
Exomes Max Group AF 0.14118805 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139541196A>G , CM000685.2:g.139541196A>G GRCh38
NC_000023.10:g.138623355A>G , CM000685.1:g.138623355A>G GRCh37
NC_000023.9:g.138451021A>G NCBI36
NG_007994.1:g.15461A>G , LRG_556:g.15461A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000218099.7:c.391+7A>G MANE Select ENSP00000218099.2:n.391+7A>G
ENST00000218099.6:c.391+7A>G ENSP00000218099.2:n.391+7A>G
ENST00000394090.2:c.277+3810A>G ENSP00000377650.2:n.277+3810A>G
ENST00000479617.2:n.344+7A>G
NM_000133.3:c.391+7A>G , LRG_556t1:c.391+7A>G NP_000124.1:n.391+7A>G
NM_001313913.1:c.277+3810A>G NP_001300842.1:n.277+3810A>G
XM_005262397.3:c.391+7A>G XP_005262454.1:n.391+7A>G
XM_005262397.4:c.391+7A>G XP_005262454.1:n.391+7A>G
NM_000133.4:c.391+7A>G MANE Select NP_000124.1:n.391+7A>G
NM_001313913.2:c.277+3810A>G NP_001300842.1:n.277+3810A>G
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