Canonical Allele Identifier: CA255318
Gene: F9 HGNC NCBI

Linked Data

ClinVar Variation Id: 10573
ClinVar RCV Id: RCV000011319 RCV000757260 RCV000852079 RCV001851790 RCV002490353
dbSNP Id: rs137852228
gnomAD v2: X-138619304-G-A
gnomAD v4: X-139537145-G-A
MyVariant Identifiers: chrX:g.138619304G>A (hg19) chrX:g.139537145G>A (hg38)
PubMed: PMID:2773937
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139537145G>A , CM000685.2:g.139537145G>A GRCh38
NC_000023.10:g.138619304G>A , CM000685.1:g.138619304G>A GRCh37
NC_000023.9:g.138446970G>A NCBI36
NG_007994.1:g.11410G>A , LRG_556:g.11410G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000218099.7:c.224G>A MANE Select ENSP00000218099.2:p.Arg75Gln
ENST00000218099.6:c.224G>A ENSP00000218099.2:p.Arg75Gln
ENST00000394090.2:c.224G>A ENSP00000377650.2:p.Arg75Gln
ENST00000479617.2:n.231G>A
NM_000133.3:c.224G>A , LRG_556t1:c.224G>A NP_000124.1:p.Arg75Gln
NM_001313913.1:c.224G>A NP_001300842.1:p.Arg75Gln
XM_005262397.3:c.224G>A XP_005262454.1:p.Arg75Gln
XM_005262397.4:c.224G>A XP_005262454.1:p.Arg75Gln
NM_000133.4:c.224G>A MANE Select NP_000124.1:p.Arg75Gln
NM_001313913.2:c.224G>A NP_001300842.1:p.Arg75Gln
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