Canonical Allele Identifier: CA255350

Gene: F9

Linked Data

• ClinVar Variation Id: 10590
• ClinVar RCV Id: RCV000011336 ; RCV001810848 ; RCV002512970 ; RCV003407315
• dbSNP Id: rs137852240
• COSMIC: COSM1715629
• MyVariant Identifiers: chrX:g.138633376C>T (hg19) ; chrX:g.139551217C>T (hg38)
• PubMed: PMID:734633 ; PMID:2592373

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139551217C>T , CM000685.2:g.139551217C>T	GRCh38
NC_000023.10:g.138633376C>T , CM000685.1:g.138633376C>T	GRCh37
NC_000023.9:g.138461042C>T	NCBI36
NG_007994.1:g.25482C>T , LRG_556:g.25482C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.676C>T MANE Select	ENSP00000218099.2:p.Arg226Trp
ENST00000643157.1:n.1343C>T
ENST00000218099.6:c.676C>T	ENSP00000218099.2:p.Arg226Trp
ENST00000394090.2:c.562C>T	ENSP00000377650.2:p.Arg188Trp
NM_000133.3:c.676C>T , LRG_556t1:c.676C>T	NP_000124.1:p.Arg226Trp
NM_001313913.1:c.562C>T	NP_001300842.1:p.Arg188Trp
XM_005262397.3:c.547C>T	XP_005262454.1:p.Arg183Trp
XM_005262397.4:c.547C>T	XP_005262454.1:p.Arg183Trp
NM_000133.4:c.676C>T MANE Select	NP_000124.1:p.Arg226Trp
NM_001313913.2:c.562C>T	NP_001300842.1:p.Arg188Trp