Canonical Allele Identifier: CA518864314

Gene: F9

Linked Data

• ClinVar Variation Id: 976626
• ClinVar RCV Id: RCV001253983 ; RCV003770323
• dbSNP Id: rs1928132545
• MyVariant Identifiers: chrX:g.138644176T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139562017T>C , CM000685.2:g.139562017T>C	GRCh38
NC_000023.10:g.138644176T>C , CM000685.1:g.138644176T>C	GRCh37
NC_000023.9:g.138471842T>C	NCBI36
NG_007994.1:g.36282T>C , LRG_556:g.36282T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.1332T>C MANE Select	ENSP00000218099.2:p.Tyr444=
ENST00000643157.1:n.1723+276T>C
ENST00000218099.6:c.1332T>C	ENSP00000218099.2:p.Tyr444=
ENST00000394090.2:c.1218T>C	ENSP00000377650.2:p.Tyr406=
NM_000133.3:c.1332T>C , LRG_556t1:c.1332T>C	NP_000124.1:p.Tyr444=
NM_001313913.1:c.1218T>C	NP_001300842.1:p.Tyr406=
XM_005262397.3:c.1203T>C	XP_005262454.1:p.Tyr401=
XM_005262397.4:c.1203T>C	XP_005262454.1:p.Tyr401=
NM_000133.4:c.1332T>C MANE Select	NP_000124.1:p.Tyr444=
NM_001313913.2:c.1218T>C	NP_001300842.1:p.Tyr406=