Canonical Allele Identifier: CA414440306

Gene: F9

Linked Data

• ClinVar Variation Id: 811518
• ClinVar RCV Id: RCV001001433
• dbSNP Id: rs1603265779
• MyVariant Identifiers: chrX:g.138633233G>T (hg19) ; chrX:g.139551074G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139551074G>T , CM000685.2:g.139551074G>T	GRCh38
NC_000023.10:g.138633233G>T , CM000685.1:g.138633233G>T	GRCh37
NC_000023.9:g.138460899G>T	NCBI36
NG_007994.1:g.25339G>T , LRG_556:g.25339G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.533G>T MANE Select	ENSP00000218099.2:p.Cys178Phe
ENST00000643157.1:n.1200G>T
ENST00000218099.6:c.533G>T	ENSP00000218099.2:p.Cys178Phe
ENST00000394090.2:c.419G>T	ENSP00000377650.2:p.Cys140Phe
NM_000133.3:c.533G>T , LRG_556t1:c.533G>T	NP_000124.1:p.Cys178Phe
NM_001313913.1:c.419G>T	NP_001300842.1:p.Cys140Phe
XM_005262397.3:c.404G>T	XP_005262454.1:p.Cys135Phe
XM_005262397.4:c.404G>T	XP_005262454.1:p.Cys135Phe
NM_000133.4:c.533G>T MANE Select	NP_000124.1:p.Cys178Phe
NM_001313913.2:c.419G>T	NP_001300842.1:p.Cys140Phe