Canonical Allele Identifier: CA121128

Gene: F9

Linked Data

• ClinVar Variation Id: 10591
• ClinVar RCV Id: RCV000011337 ; RCV001727513
• dbSNP Id: rs137852241
• MyVariant Identifiers: chrX:g.138633377G>A (hg19) ; chrX:g.139551218G>A (hg38)
• PubMed: PMID:734633 ; PMID:2563663 ; PMID:8352232

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139551218G>A , CM000685.2:g.139551218G>A	GRCh38
NC_000023.10:g.138633377G>A , CM000685.1:g.138633377G>A	GRCh37
NC_000023.9:g.138461043G>A	NCBI36
NG_007994.1:g.25483G>A , LRG_556:g.25483G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.677G>A MANE Select	ENSP00000218099.2:p.Arg226Gln
ENST00000643157.1:n.1344G>A
ENST00000218099.6:c.677G>A	ENSP00000218099.2:p.Arg226Gln
ENST00000394090.2:c.563G>A	ENSP00000377650.2:p.Arg188Gln
NM_000133.3:c.677G>A , LRG_556t1:c.677G>A	NP_000124.1:p.Arg226Gln
NM_001313913.1:c.563G>A	NP_001300842.1:p.Arg188Gln
XM_005262397.3:c.548G>A	XP_005262454.1:p.Arg183Gln
XM_005262397.4:c.548G>A	XP_005262454.1:p.Arg183Gln
NM_000133.4:c.677G>A MANE Select	NP_000124.1:p.Arg226Gln
NM_001313913.2:c.563G>A	NP_001300842.1:p.Arg188Gln