Canonical Allele Identifier: CA121138

Gene: F9

Linked Data

• ClinVar Variation Id: 10668
• ClinVar RCV Id: RCV000011414 ; RCV000119810
• dbSNP Id: rs137852283
• MyVariant Identifiers: chrX:g.138643995G>T (hg19) ; chrX:g.139561836G>T (hg38)
• PubMed: PMID:19846852 ; PMID:20301668

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139561836G>T , CM000685.2:g.139561836G>T	GRCh38
NC_000023.10:g.138643995G>T , CM000685.1:g.138643995G>T	GRCh37
NC_000023.9:g.138471661G>T	NCBI36
NG_007994.1:g.36101G>T , LRG_556:g.36101G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.1151G>T MANE Select	ENSP00000218099.2:p.Arg384Leu
ENST00000643157.1:n.1723+95G>T
ENST00000218099.6:c.1151G>T	ENSP00000218099.2:p.Arg384Leu
ENST00000394090.2:c.1037G>T	ENSP00000377650.2:p.Arg346Leu
NM_000133.3:c.1151G>T , LRG_556t1:c.1151G>T	NP_000124.1:p.Arg384Leu
NM_001313913.1:c.1037G>T	NP_001300842.1:p.Arg346Leu
XM_005262397.3:c.1022G>T	XP_005262454.1:p.Arg341Leu
XM_005262397.4:c.1022G>T	XP_005262454.1:p.Arg341Leu
NM_000133.4:c.1151G>T MANE Select	NP_000124.1:p.Arg384Leu
NM_001313913.2:c.1037G>T	NP_001300842.1:p.Arg346Leu