Canonical Allele Identifier: CA414437810

Gene: F9

Linked Data

• ClinVar Variation Id: 1026859
• ClinVar RCV Id: RCV001327375
• dbSNP Id: rs770120402
• gnomAD v4: X-139541162-G-A
• MyVariant Identifiers: chrX:g.138623321G>A (hg19) ; chrX:g.139541162G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139541162G>A , CM000685.2:g.139541162G>A	GRCh38
NC_000023.10:g.138623321G>A , CM000685.1:g.138623321G>A	GRCh37
NC_000023.9:g.138450987G>A	NCBI36
NG_007994.1:g.15427G>A , LRG_556:g.15427G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.364G>A MANE Select	ENSP00000218099.2:p.Gly122Arg
ENST00000218099.6:c.364G>A	ENSP00000218099.2:p.Gly122Arg
ENST00000394090.2:c.277+3776G>A	ENSP00000377650.2:n.277+3776G>A
ENST00000479617.2:n.317G>A
NM_000133.3:c.364G>A , LRG_556t1:c.364G>A	NP_000124.1:p.Gly122Arg
NM_001313913.1:c.277+3776G>A	NP_001300842.1:n.277+3776G>A
XM_005262397.3:c.364G>A	XP_005262454.1:p.Gly122Arg
XM_005262397.4:c.364G>A	XP_005262454.1:p.Gly122Arg
NM_000133.4:c.364G>A MANE Select	NP_000124.1:p.Gly122Arg
NM_001313913.2:c.277+3776G>A	NP_001300842.1:n.277+3776G>A