Canonical Allele Identifier: CA10529863

Gene: F9

Linked Data

• ClinVar Variation Id: 700040
• ClinVar RCV Id: RCV000868064 ; RCV001274535 ; RCV003955657
• dbSNP Id: rs145026483
• ExAC: X:138643873 C / T
• gnomAD v2: X-138643873-C-T
• gnomAD v3: X-139561714-C-T
• gnomAD v4: X-139561714-C-T
• MyVariant Identifiers: chrX:g.138643873C>T (hg19) ; chrX:g.139561714C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139561714C>T , CM000685.2:g.139561714C>T	GRCh38
NC_000023.10:g.138643873C>T , CM000685.1:g.138643873C>T	GRCh37
NC_000023.9:g.138471539C>T	NCBI36
NG_007994.1:g.35979C>T , LRG_556:g.35979C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.1029C>T MANE Select	ENSP00000218099.2:p.Asn343=
ENST00000643157.1:n.1696C>T
ENST00000218099.6:c.1029C>T	ENSP00000218099.2:p.Asn343=
ENST00000394090.2:c.915C>T	ENSP00000377650.2:p.Asn305=
NM_000133.3:c.1029C>T , LRG_556t1:c.1029C>T	NP_000124.1:p.Asn343=
NM_001313913.1:c.915C>T	NP_001300842.1:p.Asn305=
XM_005262397.3:c.900C>T	XP_005262454.1:p.Asn300=
XM_005262397.4:c.900C>T	XP_005262454.1:p.Asn300=
NM_000133.4:c.1029C>T MANE Select	NP_000124.1:p.Asn343=
NM_001313913.2:c.915C>T	NP_001300842.1:p.Asn305=