Canonical Allele Identifier: CA255197

Gene: F8

Linked Data

• ClinVar Variation Id: 10304
• ClinVar RCV Id: RCV000011017
• dbSNP Id: rs137852453
• gnomAD v4: X-154902120-G-A
• MyVariant Identifiers: chrX:g.154130395G>A (hg19) ; chrX:g.154902120G>A (hg38)
• ERepo: CA255197/MONDO:0010602/071
• PubMed: PMID:1924291 ; PMID:7728145

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154902120G>A , CM000685.2:g.154902120G>A	GRCh38
NC_000023.10:g.154130395G>A , CM000685.1:g.154130395G>A	GRCh37
NC_000023.9:g.153783589G>A	NCBI36
NG_011403.1:g.125604C>T
NG_011403.2:g.125604C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.6046C>T MANE Select	ENSP00000353393.4:p.Arg2016Trp
ENST00000360256.8:c.6046C>T	ENSP00000353393.4:p.Arg2016Trp
NM_000132.3:c.6046C>T	NP_000123.1:p.Arg2016Trp
XM_011531126.1:c.5941C>T	XP_011529428.1:p.Arg1981Trp
NM_000132.4:c.6046C>T MANE Select	NP_000123.1:p.Arg2016Trp