Canonical Allele Identifier: CA10529816

Gene: F9

Linked Data

• dbSNP Id: rs758997540
• ExAC: X:138633347 A / G
• gnomAD v2: X-138633347-A-G
• gnomAD v4: X-139551188-A-G
• MyVariant Identifiers: chrX:g.138633347A>G (hg19) ; chrX:g.139551188A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139551188A>G , CM000685.2:g.139551188A>G	GRCh38
NC_000023.10:g.138633347A>G , CM000685.1:g.138633347A>G	GRCh37
NC_000023.9:g.138461013A>G	NCBI36
NG_007994.1:g.25453A>G , LRG_556:g.25453A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.647A>G MANE Select	ENSP00000218099.2:p.Gln216Arg
ENST00000643157.1:n.1314A>G
ENST00000218099.6:c.647A>G	ENSP00000218099.2:p.Gln216Arg
ENST00000394090.2:c.533A>G	ENSP00000377650.2:p.Gln178Arg
NM_000133.3:c.647A>G , LRG_556t1:c.647A>G	NP_000124.1:p.Gln216Arg
NM_001313913.1:c.533A>G	NP_001300842.1:p.Gln178Arg
XM_005262397.3:c.518A>G	XP_005262454.1:p.Gln173Arg
XM_005262397.4:c.518A>G	XP_005262454.1:p.Gln173Arg
NM_000133.4:c.647A>G MANE Select	NP_000124.1:p.Gln216Arg
NM_001313913.2:c.533A>G	NP_001300842.1:p.Gln178Arg