Canonical Allele Identifier: CA255115

Gene: F8

Linked Data

• ClinVar Variation Id: 10225
• ClinVar RCV Id: RCV000010938 ; RCV003656622
• dbSNP Id: rs137852418
• ExAC: X:154185335 C / T
• gnomAD v2: X-154185335-C-T
• gnomAD v4: X-154957060-C-T
• COSMIC: COSM4682249 ; COSM4682250
• MyVariant Identifiers: chrX:g.154185335C>T (hg19) ; chrX:g.154957060C>T (hg38)
• ERepo: CA255115/MONDO:0010602/071
• PubMed: PMID:7728145

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154957060C>T , CM000685.2:g.154957060C>T	GRCh38
NC_000023.10:g.154185335C>T , CM000685.1:g.154185335C>T	GRCh37
NC_000023.9:g.153838529C>T	NCBI36
NG_011403.1:g.70664G>A
NG_011403.2:g.70664G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.1649G>A MANE Select	ENSP00000353393.4:p.Arg550His
ENST00000647125.1:c.*1525G>A	ENSP00000496062.1:n.*1525G>A
ENST00000360256.8:c.1649G>A	ENSP00000353393.4:p.Arg550His
NM_000132.3:c.1649G>A	NP_000123.1:p.Arg550His
XM_011531126.1:c.1544G>A	XP_011529428.1:p.Arg515His
NM_000132.4:c.1649G>A MANE Select	NP_000123.1:p.Arg550His