Canonical Allele Identifier: CA414446319

Gene: F9

Linked Data

• ClinVar Variation Id: 810869
• ClinVar RCV Id: RCV001000169 ; RCV003769377
• dbSNP Id: rs1603267412
• gnomAD v4: X-139561859-A-G
• MyVariant Identifiers: chrX:g.138644018A>G (hg19) ; chrX:g.139561859A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139561859A>G , CM000685.2:g.139561859A>G	GRCh38
NC_000023.10:g.138644018A>G , CM000685.1:g.138644018A>G	GRCh37
NC_000023.9:g.138471684A>G	NCBI36
NG_007994.1:g.36124A>G , LRG_556:g.36124A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.1174A>G MANE Select	ENSP00000218099.2:p.Asn392Asp
ENST00000643157.1:n.1723+118A>G
ENST00000218099.6:c.1174A>G	ENSP00000218099.2:p.Asn392Asp
ENST00000394090.2:c.1060A>G	ENSP00000377650.2:p.Asn354Asp
NM_000133.3:c.1174A>G , LRG_556t1:c.1174A>G	NP_000124.1:p.Asn392Asp
NM_001313913.1:c.1060A>G	NP_001300842.1:p.Asn354Asp
XM_005262397.3:c.1045A>G	XP_005262454.1:p.Asn349Asp
XM_005262397.4:c.1045A>G	XP_005262454.1:p.Asn349Asp
NM_000133.4:c.1174A>G MANE Select	NP_000124.1:p.Asn392Asp
NM_001313913.2:c.1060A>G	NP_001300842.1:p.Asn354Asp