Canonical Allele Identifier: CA518861377

Gene: F9

Linked Data

• ClinVar Variation Id: 2946567
• ClinVar RCV Id: RCV003808805
• MyVariant Identifiers: chrX:g.138630634G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139548475G>A , CM000685.2:g.139548475G>A	GRCh38
NC_000023.10:g.138630634G>A , CM000685.1:g.138630634G>A	GRCh37
NC_000023.9:g.138458300G>A	NCBI36
NG_007994.1:g.22740G>A , LRG_556:g.22740G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.504G>A MANE Select	ENSP00000218099.2:p.Lys168=
ENST00000643157.1:n.1171G>A
ENST00000218099.6:c.504G>A	ENSP00000218099.2:p.Lys168=
ENST00000394090.2:c.390G>A	ENSP00000377650.2:p.Lys130=
NM_000133.3:c.504G>A , LRG_556t1:c.504G>A	NP_000124.1:p.Lys168=
NM_001313913.1:c.390G>A	NP_001300842.1:p.Lys130=
XM_005262397.3:c.392-2587G>A	XP_005262454.1:n.392-2587G>A
XM_005262397.4:c.392-2587G>A	XP_005262454.1:n.392-2587G>A
NM_000133.4:c.504G>A MANE Select	NP_000124.1:p.Lys168=
NM_001313913.2:c.390G>A	NP_001300842.1:p.Lys130=