Canonical Allele Identifier: CA414446367

Gene: F9

Linked Data

• ClinVar Variation Id: 2138745
• ClinVar RCV Id: RCV003050660
• dbSNP Id: rs137852273
• MyVariant Identifiers: chrX:g.138644031G>A (hg19) ; chrX:g.139561872G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139561872G>A , CM000685.2:g.139561872G>A	GRCh38
NC_000023.10:g.138644031G>A , CM000685.1:g.138644031G>A	GRCh37
NC_000023.9:g.138471697G>A	NCBI36
NG_007994.1:g.36137G>A , LRG_556:g.36137G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.1187G>A MANE Select	ENSP00000218099.2:p.Cys396Tyr
ENST00000643157.1:n.1723+131G>A
ENST00000218099.6:c.1187G>A	ENSP00000218099.2:p.Cys396Tyr
ENST00000394090.2:c.1073G>A	ENSP00000377650.2:p.Cys358Tyr
NM_000133.3:c.1187G>A , LRG_556t1:c.1187G>A	NP_000124.1:p.Cys396Tyr
NM_001313913.1:c.1073G>A	NP_001300842.1:p.Cys358Tyr
XM_005262397.3:c.1058G>A	XP_005262454.1:p.Cys353Tyr
XM_005262397.4:c.1058G>A	XP_005262454.1:p.Cys353Tyr
NM_000133.4:c.1187G>A MANE Select	NP_000124.1:p.Cys396Tyr
NM_001313913.2:c.1073G>A	NP_001300842.1:p.Cys358Tyr