Canonical Allele Identifier: CA414447219

Gene: F9

Linked Data

• ClinVar Variation Id: 811512
• ClinVar RCV Id: RCV001001426
• dbSNP Id: rs1385141619
• MyVariant Identifiers: chrX:g.138644148G>A (hg19) ; chrX:g.139561989G>A (hg38)
• ERepo: CA414447219/MONDO:0010604/080

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139561989G>A , CM000685.2:g.139561989G>A	GRCh38
NC_000023.10:g.138644148G>A , CM000685.1:g.138644148G>A	GRCh37
NC_000023.9:g.138471814G>A	NCBI36
NG_007994.1:g.36254G>A , LRG_556:g.36254G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.1304G>A MANE Select	ENSP00000218099.2:p.Cys435Tyr
ENST00000643157.1:n.1723+248G>A
ENST00000218099.6:c.1304G>A	ENSP00000218099.2:p.Cys435Tyr
ENST00000394090.2:c.1190G>A	ENSP00000377650.2:p.Cys397Tyr
NM_000133.3:c.1304G>A , LRG_556t1:c.1304G>A	NP_000124.1:p.Cys435Tyr
NM_001313913.1:c.1190G>A	NP_001300842.1:p.Cys397Tyr
XM_005262397.3:c.1175G>A	XP_005262454.1:p.Cys392Tyr
XM_005262397.4:c.1175G>A	XP_005262454.1:p.Cys392Tyr
NM_000133.4:c.1304G>A MANE Select	NP_000124.1:p.Cys435Tyr
NM_001313913.2:c.1190G>A	NP_001300842.1:p.Cys397Tyr