Canonical Allele Identifier: CA255109

Gene: F8

Linked Data

• ClinVar Variation Id: 10217
• ClinVar RCV Id: RCV000010930 ; RCV000851700
• dbSNP Id: rs137852414
• gnomAD v3: X-154961120-C-T
• gnomAD v4: X-154961120-C-T
• MyVariant Identifiers: chrX:g.154189395C>T (hg19) ; chrX:g.154961120C>T (hg38)
• PubMed: PMID:6438527 ; PMID:7728145 ; PMID:8281136

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154961120C>T , CM000685.2:g.154961120C>T	GRCh38
NC_000023.10:g.154189395C>T , CM000685.1:g.154189395C>T	GRCh37
NC_000023.9:g.153842589C>T	NCBI36
NG_011403.1:g.66604G>A
NG_011403.2:g.66604G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.1492G>A MANE Select	ENSP00000353393.4:p.Gly498Arg
ENST00000647125.1:c.*1368G>A	ENSP00000496062.1:n.*1368G>A
ENST00000360256.8:c.1492G>A	ENSP00000353393.4:p.Gly498Arg
NM_000132.3:c.1492G>A	NP_000123.1:p.Gly498Arg
XM_011531126.1:c.1387G>A	XP_011529428.1:p.Gly463Arg
NM_000132.4:c.1492G>A MANE Select	NP_000123.1:p.Gly498Arg