Canonical Allele Identifier: CA277507

Gene: F9

Linked Data

• ClinVar Variation Id: 216926
• ClinVar RCV Id: RCV000197147 ; RCV000851896 ; RCV000851897 ; RCV001378167 ; RCV001781582
• dbSNP Id: rs137852247
• gnomAD v4: X-139560852-G-A
• COSMIC: COSM1115965
• MyVariant Identifiers: chrX:g.138643011G>A (hg19) ; chrX:g.139560852G>A (hg38)
• ERepo: CA277507/MONDO:0010604/080
• PubMed: PMID:25326637

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139560852G>A , CM000685.2:g.139560852G>A	GRCh38
NC_000023.10:g.138643011G>A , CM000685.1:g.138643011G>A	GRCh37
NC_000023.9:g.138470677G>A	NCBI36
NG_007994.1:g.35117G>A , LRG_556:g.35117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.835G>A MANE Select	ENSP00000218099.2:p.Ala279Thr
ENST00000643157.1:n.1502G>A
ENST00000218099.6:c.835G>A	ENSP00000218099.2:p.Ala279Thr
ENST00000394090.2:c.721G>A	ENSP00000377650.2:p.Ala241Thr
NM_000133.3:c.835G>A , LRG_556t1:c.835G>A	NP_000124.1:p.Ala279Thr
NM_001313913.1:c.721G>A	NP_001300842.1:p.Ala241Thr
XM_005262397.3:c.706G>A	XP_005262454.1:p.Ala236Thr
XM_005262397.4:c.706G>A	XP_005262454.1:p.Ala236Thr
NM_000133.4:c.835G>A MANE Select	NP_000124.1:p.Ala279Thr
NM_001313913.2:c.721G>A	NP_001300842.1:p.Ala241Thr