Canonical Allele Identifier: CA414436218

Gene: F9

Linked Data

• ClinVar Variation Id: 994019
• ClinVar RCV Id: RCV001813024
• dbSNP Id: rs1927499978
• MyVariant Identifiers: chrX:g.138619315G>A (hg19) ; chrX:g.139537156G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139537156G>A , CM000685.2:g.139537156G>A	GRCh38
NC_000023.10:g.138619315G>A , CM000685.1:g.138619315G>A	GRCh37
NC_000023.9:g.138446981G>A	NCBI36
NG_007994.1:g.11421G>A , LRG_556:g.11421G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.235G>A MANE Select	ENSP00000218099.2:p.Glu79Lys
ENST00000218099.6:c.235G>A	ENSP00000218099.2:p.Glu79Lys
ENST00000394090.2:c.235G>A	ENSP00000377650.2:p.Glu79Lys
ENST00000479617.2:n.241+1G>A
NM_000133.3:c.235G>A , LRG_556t1:c.235G>A	NP_000124.1:p.Glu79Lys
NM_001313913.1:c.235G>A	NP_001300842.1:p.Glu79Lys
XM_005262397.3:c.235G>A	XP_005262454.1:p.Glu79Lys
XM_005262397.4:c.235G>A	XP_005262454.1:p.Glu79Lys
NM_000133.4:c.235G>A MANE Select	NP_000124.1:p.Glu79Lys
NM_001313913.2:c.235G>A	NP_001300842.1:p.Glu79Lys