Canonical Allele Identifier: CA414446027
Gene: F9 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.139561805G>A
GRCh37 chrX:g.138643964G>A
Revel Score:
ENST00000218099 (MANE Select) 0.533
ENST00000394090 0.533
gnomAD v3:
X:139561805 G / A
gnomAD v4:
chrX-139561805-G-A
Joint Max Group AF 8.9e-7 (NFE)
Exomes Max Group AF 4e-7 (NFE)
ClinVar RCV:
RCV005241157
ClinVar Variation:
3769491
dbSNP:
137852271
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139561805G>A , CM000685.2:g.139561805G>A GRCh38
NC_000023.10:g.138643964G>A , CM000685.1:g.138643964G>A GRCh37
NC_000023.9:g.138471630G>A NCBI36
NG_007994.1:g.36070G>A , LRG_556:g.36070G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218099.7:c.1120G>A MANE Select ENSP00000218099.2:p.Val374Ile
ENST00000643157.1:n.1723+64G>A
ENST00000218099.6:c.1120G>A ENSP00000218099.2:p.Val374Ile
ENST00000394090.2:c.1006G>A ENSP00000377650.2:p.Val336Ile
NM_000133.3:c.1120G>A , LRG_556t1:c.1120G>A NP_000124.1:p.Val374Ile
NM_001313913.1:c.1006G>A NP_001300842.1:p.Val336Ile
XM_005262397.3:c.991G>A XP_005262454.1:p.Val331Ile
XM_005262397.4:c.991G>A XP_005262454.1:p.Val331Ile
NM_000133.4:c.1120G>A MANE Select NP_000124.1:p.Val374Ile
NM_001313913.2:c.1006G>A NP_001300842.1:p.Val336Ile
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