Canonical Allele Identifier: CA518862948

Gene: F9

Linked Data

• ClinVar Variation Id: 2945637
• ClinVar RCV Id: RCV003803731
• MyVariant Identifiers: chrX:g.138642920T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139560761T>A , CM000685.2:g.139560761T>A	GRCh38
NC_000023.10:g.138642920T>A , CM000685.1:g.138642920T>A	GRCh37
NC_000023.9:g.138470586T>A	NCBI36
NG_007994.1:g.35026T>A , LRG_556:g.35026T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.744T>A MANE Select	ENSP00000218099.2:p.Val248=
ENST00000643157.1:n.1411T>A
ENST00000218099.6:c.744T>A	ENSP00000218099.2:p.Val248=
ENST00000394090.2:c.630T>A	ENSP00000377650.2:p.Val210=
NM_000133.3:c.744T>A , LRG_556t1:c.744T>A	NP_000124.1:p.Val248=
NM_001313913.1:c.630T>A	NP_001300842.1:p.Val210=
XM_005262397.3:c.615T>A	XP_005262454.1:p.Val205=
XM_005262397.4:c.615T>A	XP_005262454.1:p.Val205=
NM_000133.4:c.744T>A MANE Select	NP_000124.1:p.Val248=
NM_001313913.2:c.630T>A	NP_001300842.1:p.Val210=