Canonical Allele Identifier: CA872117733

Gene: F9

Linked Data

• ClinVar Variation Id: 2138735
• ClinVar RCV Id: RCV003066385
• dbSNP Id: rs1475223858
• gnomAD v4: X-139541064-C-T
• MyVariant Identifiers: chrX:g.138623223C>T (hg19) ; chrX:g.139541064C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139541064C>T , CM000685.2:g.139541064C>T	GRCh38
NC_000023.10:g.138623223C>T , CM000685.1:g.138623223C>T	GRCh37
NC_000023.9:g.138450889C>T	NCBI36
NG_007994.1:g.15329C>T , LRG_556:g.15329C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.278-12C>T MANE Select	ENSP00000218099.2:n.278-12C>T
ENST00000218099.6:c.278-12C>T	ENSP00000218099.2:n.278-12C>T
ENST00000394090.2:c.277+3678C>T	ENSP00000377650.2:n.277+3678C>T
ENST00000479617.2:n.242-23C>T
NM_000133.3:c.278-12C>T , LRG_556t1:c.278-12C>T	NP_000124.1:n.278-12C>T
NM_001313913.1:c.277+3678C>T	NP_001300842.1:n.277+3678C>T
XM_005262397.3:c.278-12C>T	XP_005262454.1:n.278-12C>T
XM_005262397.4:c.278-12C>T	XP_005262454.1:n.278-12C>T
NM_000133.4:c.278-12C>T MANE Select	NP_000124.1:n.278-12C>T
NM_001313913.2:c.277+3678C>T	NP_001300842.1:n.277+3678C>T