Canonical Allele Identifier: CA255154

Gene: F8

Linked Data

• ClinVar Variation Id: 10266
• ClinVar RCV Id: RCV000010979 ; RCV000851813 ; RCV001091839 ; RCV003914826
• dbSNP Id: rs111033614
• gnomAD v2: X-154156942-C-T
• gnomAD v3: X-154928667-C-T
• gnomAD v4: X-154928667-C-T
• COSMIC: COSM3844141 ; COSM3844142
• MyVariant Identifiers: chrX:g.154156942C>T (hg19) ; chrX:g.154928667C>T (hg38)
• PubMed: PMID:8485051

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154928667C>T , CM000685.2:g.154928667C>T	GRCh38
NC_000023.10:g.154156942C>T , CM000685.1:g.154156942C>T	GRCh37
NC_000023.9:g.153810136C>T	NCBI36
NG_011403.1:g.99057G>A
NG_011403.2:g.99057G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.5123G>A MANE Select	ENSP00000353393.4:p.Arg1708His
ENST00000360256.8:c.5123G>A	ENSP00000353393.4:p.Arg1708His
NM_000132.3:c.5123G>A	NP_000123.1:p.Arg1708His
XM_011531126.1:c.5018G>A	XP_011529428.1:p.Arg1673His
NM_000132.4:c.5123G>A MANE Select	NP_000123.1:p.Arg1708His