Canonical Allele Identifier: CA414447553

Gene: F9

Linked Data

• ClinVar Variation Id: 810865
• ClinVar RCV Id: RCV001000160
• dbSNP Id: rs1603267486
• MyVariant Identifiers: chrX:g.138644205T>C (hg19) ; chrX:g.139562046T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139562046T>C , CM000685.2:g.139562046T>C	GRCh38
NC_000023.10:g.138644205T>C , CM000685.1:g.138644205T>C	GRCh37
NC_000023.9:g.138471871T>C	NCBI36
NG_007994.1:g.36311T>C , LRG_556:g.36311T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.1361T>C MANE Select	ENSP00000218099.2:p.Ile454Thr
ENST00000643157.1:n.1723+305T>C
ENST00000218099.6:c.1361T>C	ENSP00000218099.2:p.Ile454Thr
ENST00000394090.2:c.1247T>C	ENSP00000377650.2:p.Ile416Thr
NM_000133.3:c.1361T>C , LRG_556t1:c.1361T>C	NP_000124.1:p.Ile454Thr
NM_001313913.1:c.1247T>C	NP_001300842.1:p.Ile416Thr
XM_005262397.3:c.1232T>C	XP_005262454.1:p.Ile411Thr
XM_005262397.4:c.1232T>C	XP_005262454.1:p.Ile411Thr
NM_000133.4:c.1361T>C MANE Select	NP_000124.1:p.Ile454Thr
NM_001313913.2:c.1247T>C	NP_001300842.1:p.Ile416Thr