Canonical Allele Identifier: CA10529714
Gene: F9 HGNC NCBI

Linked Data

ClinVar Variation Id: 697610
ClinVar RCV Id: RCV000864557 RCV001830877
dbSNP Id: rs774612303
ExAC: X:138612974 C / T
gnomAD v2: X-138612974-C-T
gnomAD v3: X-139530815-C-T
gnomAD v4: X-139530815-C-T
MyVariant Identifiers: chrX:g.138612974C>T (hg19) chrX:g.139530815C>T (hg38)
ERepo: CA10529714/MONDO:0010604/080
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139530815C>T , CM000685.2:g.139530815C>T GRCh38
NC_000023.10:g.138612974C>T , CM000685.1:g.138612974C>T GRCh37
NC_000023.9:g.138440640C>T NCBI36
NG_007994.1:g.5080C>T , LRG_556:g.5080C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218099.7:c.51C>T MANE Select ENSP00000218099.2:p.Ile17=
ENST00000218099.6:c.51C>T ENSP00000218099.2:p.Ile17=
ENST00000394090.2:c.51C>T ENSP00000377650.2:p.Ile17=
ENST00000479617.2:n.58C>T
NM_000133.3:c.51C>T , LRG_556t1:c.51C>T NP_000124.1:p.Ile17=
NM_001313913.1:c.51C>T NP_001300842.1:p.Ile17=
XM_005262397.3:c.51C>T XP_005262454.1:p.Ile17=
XM_005262397.4:c.51C>T XP_005262454.1:p.Ile17=
NM_000133.4:c.51C>T MANE Select NP_000124.1:p.Ile17=
NM_001313913.2:c.51C>T NP_001300842.1:p.Ile17=
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