Canonical Allele Identifier: CA255162

Gene: F8

Linked Data

• ClinVar Variation Id: 10274
• ClinVar RCV Id: RCV000010987 ; RCV001552643 ; RCV003430635
• dbSNP Id: rs137852442
• gnomAD v4: X-154904998-C-T
• MyVariant Identifiers: chrX:g.154133273C>T (hg19) ; chrX:g.154904998C>T (hg38)
• ERepo: CA255162/MONDO:0010602/071
• PubMed: PMID:1908096 ; PMID:7728145

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154904998C>T , CM000685.2:g.154904998C>T	GRCh38
NC_000023.10:g.154133273C>T , CM000685.1:g.154133273C>T	GRCh37
NC_000023.9:g.153786467C>T	NCBI36
NG_011403.1:g.122726G>A
NG_011403.2:g.122726G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.5399G>A MANE Select	ENSP00000353393.4:p.Arg1800His
ENST00000360256.8:c.5399G>A	ENSP00000353393.4:p.Arg1800His
NM_000132.3:c.5399G>A	NP_000123.1:p.Arg1800His
XM_011531126.1:c.5294G>A	XP_011529428.1:p.Arg1765His
NM_000132.4:c.5399G>A MANE Select	NP_000123.1:p.Arg1800His