Canonical Allele Identifier: CA414441049

Gene: F9

Linked Data

• ClinVar Variation Id: 2925693
• ClinVar RCV Id: RCV003783787
• MyVariant Identifiers: chrX:g.138633359C>A (hg19) ; chrX:g.139551200C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139551200C>A , CM000685.2:g.139551200C>A	GRCh38
NC_000023.10:g.138633359C>A , CM000685.1:g.138633359C>A	GRCh37
NC_000023.9:g.138461025C>A	NCBI36
NG_007994.1:g.25465C>A , LRG_556:g.25465C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.659C>A MANE Select	ENSP00000218099.2:p.Ser220Ter
ENST00000643157.1:n.1326C>A
ENST00000218099.6:c.659C>A	ENSP00000218099.2:p.Ser220Ter
ENST00000394090.2:c.545C>A	ENSP00000377650.2:p.Ser182Ter
NM_000133.3:c.659C>A , LRG_556t1:c.659C>A	NP_000124.1:p.Ser220Ter
NM_001313913.1:c.545C>A	NP_001300842.1:p.Ser182Ter
XM_005262397.3:c.530C>A	XP_005262454.1:p.Ser177Ter
XM_005262397.4:c.530C>A	XP_005262454.1:p.Ser177Ter
NM_000133.4:c.659C>A MANE Select	NP_000124.1:p.Ser220Ter
NM_001313913.2:c.545C>A	NP_001300842.1:p.Ser182Ter