Canonical Allele Identifier: CA336137425

Gene: F9

Linked Data

• ClinVar Variation Id: 1959260
• ClinVar RCV Id: RCV002710164
• dbSNP Id: rs867548424
• gnomAD v2: X-138633289-C-T
• gnomAD v4: X-139551130-C-T
• COSMIC: COSM3558417
• MyVariant Identifiers: chrX:g.138633289C>T (hg19) ; chrX:g.139551130C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139551130C>T , CM000685.2:g.139551130C>T	GRCh38
NC_000023.10:g.138633289C>T , CM000685.1:g.138633289C>T	GRCh37
NC_000023.9:g.138460955C>T	NCBI36
NG_007994.1:g.25395C>T , LRG_556:g.25395C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.589C>T MANE Select	ENSP00000218099.2:p.Pro197Ser
ENST00000643157.1:n.1256C>T
ENST00000218099.6:c.589C>T	ENSP00000218099.2:p.Pro197Ser
ENST00000394090.2:c.475C>T	ENSP00000377650.2:p.Pro159Ser
NM_000133.3:c.589C>T , LRG_556t1:c.589C>T	NP_000124.1:p.Pro197Ser
NM_001313913.1:c.475C>T	NP_001300842.1:p.Pro159Ser
XM_005262397.3:c.460C>T	XP_005262454.1:p.Pro154Ser
XM_005262397.4:c.460C>T	XP_005262454.1:p.Pro154Ser
NM_000133.4:c.589C>T MANE Select	NP_000124.1:p.Pro197Ser
NM_001313913.2:c.475C>T	NP_001300842.1:p.Pro159Ser