Canonical Allele Identifier: CA414445085
Gene: F9 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.139561656C>A
GRCh37 chrX:g.138643815C>A
Revel Score:
ENST00000218099 (MANE Select) 0.901
ENST00000394090 0.901
gnomAD v4:
chrX-139561656-C-A
Joint Max Group AF 0.00000105 (NFE)
Exomes Max Group AF 0.00000111 (NFE)
ClinVar RCV:
RCV003388353
ClinVar Variation:
2627159
dbSNP:
1225527981
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139561656C>A , CM000685.2:g.139561656C>A GRCh38
NC_000023.10:g.138643815C>A , CM000685.1:g.138643815C>A GRCh37
NC_000023.9:g.138471481C>A NCBI36
NG_007994.1:g.35921C>A , LRG_556:g.35921C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218099.7:c.971C>A MANE Select ENSP00000218099.2:p.Pro324His
ENST00000643157.1:n.1638C>A
ENST00000218099.6:c.971C>A ENSP00000218099.2:p.Pro324His
ENST00000394090.2:c.857C>A ENSP00000377650.2:p.Pro286His
NM_000133.3:c.971C>A , LRG_556t1:c.971C>A NP_000124.1:p.Pro324His
NM_001313913.1:c.857C>A NP_001300842.1:p.Pro286His
XM_005262397.3:c.842C>A XP_005262454.1:p.Pro281His
XM_005262397.4:c.842C>A XP_005262454.1:p.Pro281His
NM_000133.4:c.971C>A MANE Select NP_000124.1:p.Pro324His
NM_001313913.2:c.857C>A NP_001300842.1:p.Pro286His
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