Canonical Allele Identifier: CA10529878

Gene: F9

Linked Data

• ClinVar Variation Id: 2138746
• ClinVar RCV Id: RCV003050661
• dbSNP Id: rs758194285
• ExAC: X:138644034 C / T
• gnomAD v3: X-139561875-C-T
• gnomAD v4: X-139561875-C-T
• MyVariant Identifiers: chrX:g.138644034C>T (hg19) ; chrX:g.139561875C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139561875C>T , CM000685.2:g.139561875C>T	GRCh38
NC_000023.10:g.138644034C>T , CM000685.1:g.138644034C>T	GRCh37
NC_000023.9:g.138471700C>T	NCBI36
NG_007994.1:g.36140C>T , LRG_556:g.36140C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.1190C>T MANE Select	ENSP00000218099.2:p.Ala397Val
ENST00000643157.1:n.1723+134C>T
ENST00000218099.6:c.1190C>T	ENSP00000218099.2:p.Ala397Val
ENST00000394090.2:c.1076C>T	ENSP00000377650.2:p.Ala359Val
NM_000133.3:c.1190C>T , LRG_556t1:c.1190C>T	NP_000124.1:p.Ala397Val
NM_001313913.1:c.1076C>T	NP_001300842.1:p.Ala359Val
XM_005262397.3:c.1061C>T	XP_005262454.1:p.Ala354Val
XM_005262397.4:c.1061C>T	XP_005262454.1:p.Ala354Val
NM_000133.4:c.1190C>T MANE Select	NP_000124.1:p.Ala397Val
NM_001313913.2:c.1076C>T	NP_001300842.1:p.Ala359Val