Canonical Allele Identifier: CA518864112

Gene: F9

Linked Data

• ClinVar Variation Id: 1145995
• ClinVar RCV Id: RCV001485054
• dbSNP Id: rs1300185736
• gnomAD v2: X-138644128-T-C
• gnomAD v3: X-139561969-T-C
• gnomAD v4: X-139561969-T-C
• MyVariant Identifiers: chrX:g.138644128T>C (hg19) ; chrX:g.139561969T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139561969T>C , CM000685.2:g.139561969T>C	GRCh38
NC_000023.10:g.138644128T>C , CM000685.1:g.138644128T>C	GRCh37
NC_000023.9:g.138471794T>C	NCBI36
NG_007994.1:g.36234T>C , LRG_556:g.36234T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000218099.7:c.1284T>C MANE Select	ENSP00000218099.2:p.Ile428=
ENST00000643157.1:n.1723+228T>C
ENST00000218099.6:c.1284T>C	ENSP00000218099.2:p.Ile428=
ENST00000394090.2:c.1170T>C	ENSP00000377650.2:p.Ile390=
NM_000133.3:c.1284T>C , LRG_556t1:c.1284T>C	NP_000124.1:p.Ile428=
NM_001313913.1:c.1170T>C	NP_001300842.1:p.Ile390=
XM_005262397.3:c.1155T>C	XP_005262454.1:p.Ile385=
XM_005262397.4:c.1155T>C	XP_005262454.1:p.Ile385=
NM_000133.4:c.1284T>C MANE Select	NP_000124.1:p.Ile428=
NM_001313913.2:c.1170T>C	NP_001300842.1:p.Ile390=