Canonical Allele Identifier: CA255342

Gene: F9

Linked Data

• ClinVar Variation Id: 10585
• ClinVar RCV Id: RCV000011331
• dbSNP Id: rs137852238
• ExAC: X:138633272 G / A
• gnomAD v2: X-138633272-G-A
• gnomAD v3: X-139551113-G-A
• gnomAD v4: X-139551113-G-A
• MyVariant Identifiers: chrX:g.138633272G>A (hg19) ; chrX:g.139551113G>A (hg38)
• PubMed: PMID:2087690 ; PMID:2773937 ; PMID:6603618

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139551113G>A , CM000685.2:g.139551113G>A	GRCh38
NC_000023.10:g.138633272G>A , CM000685.1:g.138633272G>A	GRCh37
NC_000023.9:g.138460938G>A	NCBI36
NG_007994.1:g.25378G>A , LRG_556:g.25378G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.572G>A MANE Select	ENSP00000218099.2:p.Arg191His
ENST00000643157.1:n.1239G>A
ENST00000218099.6:c.572G>A	ENSP00000218099.2:p.Arg191His
ENST00000394090.2:c.458G>A	ENSP00000377650.2:p.Arg153His
NM_000133.3:c.572G>A , LRG_556t1:c.572G>A	NP_000124.1:p.Arg191His
NM_001313913.1:c.458G>A	NP_001300842.1:p.Arg153His
XM_005262397.3:c.443G>A	XP_005262454.1:p.Arg148His
XM_005262397.4:c.443G>A	XP_005262454.1:p.Arg148His
NM_000133.4:c.572G>A MANE Select	NP_000124.1:p.Arg191His
NM_001313913.2:c.458G>A	NP_001300842.1:p.Arg153His