Canonical Allele Identifier: CA10529847
Gene: F9 HGNC NCBI
gnomAD v2:
X:138643659 T / TA
gnomAD v3:
X:139561500 T / TA
gnomAD v4:
chrX-139561500-T-TA
Joint Max Group AF 0.01398459 (NFE)
Genomes Max Group AF 0.01149319 (NFE)
Exomes Max Group AF 0.0141008 (NFE)
ClinVar RCV:
RCV000249158
ClinVar Variation:
255227
dbSNP:
773613916
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139561504dup , CM000685.2:g.139561504dup GRCh38
NC_000023.10:g.138643663dup , CM000685.1:g.138643663dup GRCh37
NC_000023.9:g.138471329dup NCBI36
NG_007994.1:g.35769dup , LRG_556:g.35769dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000218099.7:c.839-20dup MANE Select ENSP00000218099.2:n.839-20dup
ENST00000643157.1:n.1506-20dup
ENST00000218099.6:c.839-20dup ENSP00000218099.2:n.839-20dup
ENST00000394090.2:c.725-20dup ENSP00000377650.2:n.725-20dup
NM_000133.3:c.839-20dup , LRG_556t1:c.839-20dup NP_000124.1:n.839-20dup
NM_001313913.1:c.725-20dup NP_001300842.1:n.725-20dup
XM_005262397.3:c.710-20dup XP_005262454.1:n.710-20dup
XM_005262397.4:c.710-20dup XP_005262454.1:n.710-20dup
NM_000133.4:c.839-20dup MANE Select NP_000124.1:n.839-20dup
NM_001313913.2:c.725-20dup NP_001300842.1:n.725-20dup
Search 100 bp 5'
Search 100 bp 3'