Canonical Allele Identifier: CA518916597

Gene: F9

Linked Data

• ClinVar Variation Id: 2949892
• ClinVar RCV Id: RCV003807250
• MyVariant Identifiers: chrX:g.138643807G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139561648G>T , CM000685.2:g.139561648G>T	GRCh38
NC_000023.10:g.138643807G>T , CM000685.1:g.138643807G>T	GRCh37
NC_000023.9:g.138471473G>T	NCBI36
NG_007994.1:g.35913G>T , LRG_556:g.35913G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.963G>T MANE Select	ENSP00000218099.2:p.Leu321=
ENST00000643157.1:n.1630G>T
ENST00000218099.6:c.963G>T	ENSP00000218099.2:p.Leu321=
ENST00000394090.2:c.849G>T	ENSP00000377650.2:p.Leu283=
NM_000133.3:c.963G>T , LRG_556t1:c.963G>T	NP_000124.1:p.Leu321=
NM_001313913.1:c.849G>T	NP_001300842.1:p.Leu283=
XM_005262397.3:c.834G>T	XP_005262454.1:p.Leu278=
XM_005262397.4:c.834G>T	XP_005262454.1:p.Leu278=
NM_000133.4:c.963G>T MANE Select	NP_000124.1:p.Leu321=
NM_001313913.2:c.849G>T	NP_001300842.1:p.Leu283=