Canonical Allele Identifier: CA518862124

Gene: F9

Linked Data

• ClinVar Variation Id: 2927946
• ClinVar RCV Id: RCV003786768
• COSMIC: COSM6185397
• MyVariant Identifiers: chrX:g.138633376C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139551217C>A , CM000685.2:g.139551217C>A	GRCh38
NC_000023.10:g.138633376C>A , CM000685.1:g.138633376C>A	GRCh37
NC_000023.9:g.138461042C>A	NCBI36
NG_007994.1:g.25482C>A , LRG_556:g.25482C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.676C>A MANE Select	ENSP00000218099.2:p.Arg226=
ENST00000643157.1:n.1343C>A
ENST00000218099.6:c.676C>A	ENSP00000218099.2:p.Arg226=
ENST00000394090.2:c.562C>A	ENSP00000377650.2:p.Arg188=
NM_000133.3:c.676C>A , LRG_556t1:c.676C>A	NP_000124.1:p.Arg226=
NM_001313913.1:c.562C>A	NP_001300842.1:p.Arg188=
XM_005262397.3:c.547C>A	XP_005262454.1:p.Arg183=
XM_005262397.4:c.547C>A	XP_005262454.1:p.Arg183=
NM_000133.4:c.676C>A MANE Select	NP_000124.1:p.Arg226=
NM_001313913.2:c.562C>A	NP_001300842.1:p.Arg188=