Canonical Allele Identifier: CA10529798

Gene: F9

Linked Data

• ClinVar Variation Id: 1086365
• ClinVar RCV Id: RCV001404079 ; RCV003438768
• dbSNP Id: rs375658633
• ExAC: X:138630595 C / T
• gnomAD v2: X-138630595-C-T
• gnomAD v3: X-139548436-C-T
• gnomAD v4: X-139548436-C-T
• MyVariant Identifiers: chrX:g.138630595C>T (hg19) ; chrX:g.139548436C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.139548436C>T , CM000685.2:g.139548436C>T	GRCh38
NC_000023.10:g.138630595C>T , CM000685.1:g.138630595C>T	GRCh37
NC_000023.9:g.138458261C>T	NCBI36
NG_007994.1:g.22701C>T , LRG_556:g.22701C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000218099.7:c.465C>T MANE Select	ENSP00000218099.2:p.Cys155=
ENST00000643157.1:n.1132C>T
ENST00000218099.6:c.465C>T	ENSP00000218099.2:p.Cys155=
ENST00000394090.2:c.351C>T	ENSP00000377650.2:p.Cys117=
NM_000133.3:c.465C>T , LRG_556t1:c.465C>T	NP_000124.1:p.Cys155=
NM_001313913.1:c.351C>T	NP_001300842.1:p.Cys117=
XM_005262397.3:c.392-2626C>T	XP_005262454.1:n.392-2626C>T
XM_005262397.4:c.392-2626C>T	XP_005262454.1:n.392-2626C>T
NM_000133.4:c.465C>T MANE Select	NP_000124.1:p.Cys155=
NM_001313913.2:c.351C>T	NP_001300842.1:p.Cys117=