Canonical Allele Identifier: CA414446985

Gene: F9

Linked Data

• ClinVar Variation Id: 2020181
• ClinVar RCV Id: RCV002852374
• MyVariant Identifiers: chrX:g.138644116C>A (hg19) ; chrX:g.139561957C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139561957C>A , CM000685.2:g.139561957C>A	GRCh38
NC_000023.10:g.138644116C>A , CM000685.1:g.138644116C>A	GRCh37
NC_000023.9:g.138471782C>A	NCBI36
NG_007994.1:g.36222C>A , LRG_556:g.36222C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.1272C>A MANE Select	ENSP00000218099.2:p.Phe424Leu
ENST00000643157.1:n.1723+216C>A
ENST00000218099.6:c.1272C>A	ENSP00000218099.2:p.Phe424Leu
ENST00000394090.2:c.1158C>A	ENSP00000377650.2:p.Phe386Leu
NM_000133.3:c.1272C>A , LRG_556t1:c.1272C>A	NP_000124.1:p.Phe424Leu
NM_001313913.1:c.1158C>A	NP_001300842.1:p.Phe386Leu
XM_005262397.3:c.1143C>A	XP_005262454.1:p.Phe381Leu
XM_005262397.4:c.1143C>A	XP_005262454.1:p.Phe381Leu
NM_000133.4:c.1272C>A MANE Select	NP_000124.1:p.Phe424Leu
NM_001313913.2:c.1158C>A	NP_001300842.1:p.Phe386Leu