Canonical Allele Identifier: CA414441137

Gene: F9

Linked Data

• dbSNP Id: rs137852241
• COSMIC: COSM1556441
• MyVariant Identifiers: chrX:g.138633377G>T (hg19) ; chrX:g.139551218G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139551218G>T , CM000685.2:g.139551218G>T	GRCh38
NC_000023.10:g.138633377G>T , CM000685.1:g.138633377G>T	GRCh37
NC_000023.9:g.138461043G>T	NCBI36
NG_007994.1:g.25483G>T , LRG_556:g.25483G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.677G>T MANE Select	ENSP00000218099.2:p.Arg226Leu
ENST00000643157.1:n.1344G>T
ENST00000218099.6:c.677G>T	ENSP00000218099.2:p.Arg226Leu
ENST00000394090.2:c.563G>T	ENSP00000377650.2:p.Arg188Leu
NM_000133.3:c.677G>T , LRG_556t1:c.677G>T	NP_000124.1:p.Arg226Leu
NM_001313913.1:c.563G>T	NP_001300842.1:p.Arg188Leu
XM_005262397.3:c.548G>T	XP_005262454.1:p.Arg183Leu
XM_005262397.4:c.548G>T	XP_005262454.1:p.Arg183Leu
NM_000133.4:c.677G>T MANE Select	NP_000124.1:p.Arg226Leu
NM_001313913.2:c.563G>T	NP_001300842.1:p.Arg188Leu