Canonical Allele Identifier: CA414447148

Gene: F9

Linked Data

• ClinVar Variation Id: 2925701
• ClinVar RCV Id: RCV003783795
• COSMIC: COSM4589236
• MyVariant Identifiers: chrX:g.138644137G>T (hg19) ; chrX:g.139561978G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139561978G>T , CM000685.2:g.139561978G>T	GRCh38
NC_000023.10:g.138644137G>T , CM000685.1:g.138644137G>T	GRCh37
NC_000023.9:g.138471803G>T	NCBI36
NG_007994.1:g.36243G>T , LRG_556:g.36243G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.1293G>T MANE Select	ENSP00000218099.2:p.Trp431Cys
ENST00000643157.1:n.1723+237G>T
ENST00000218099.6:c.1293G>T	ENSP00000218099.2:p.Trp431Cys
ENST00000394090.2:c.1179G>T	ENSP00000377650.2:p.Trp393Cys
NM_000133.3:c.1293G>T , LRG_556t1:c.1293G>T	NP_000124.1:p.Trp431Cys
NM_001313913.1:c.1179G>T	NP_001300842.1:p.Trp393Cys
XM_005262397.3:c.1164G>T	XP_005262454.1:p.Trp388Cys
XM_005262397.4:c.1164G>T	XP_005262454.1:p.Trp388Cys
NM_000133.4:c.1293G>T MANE Select	NP_000124.1:p.Trp431Cys
NM_001313913.2:c.1179G>T	NP_001300842.1:p.Trp393Cys