Canonical Allele Identifier: CA255137

Gene: F8

Linked Data

• ClinVar Variation Id: 10245
• ClinVar RCV Id: RCV000010958 ; RCV000851590 ; RCV000851937 ; RCV002247321 ; RCV002281701 ; RCV002490350
• dbSNP Id: rs137852435
• gnomAD v2: X-154159916-G-A
• gnomAD v4: X-154931641-G-A
• COSMIC: COSM1118264 ; COSM1118265
• MyVariant Identifiers: chrX:g.154159916G>A (hg19) ; chrX:g.154931641G>A (hg38)
• PubMed: PMID:1301932

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154931641G>A , CM000685.2:g.154931641G>A	GRCh38
NC_000023.10:g.154159916G>A , CM000685.1:g.154159916G>A	GRCh37
NC_000023.9:g.153813110G>A	NCBI36
NG_011403.1:g.96083C>T
NG_011403.2:g.96083C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.2149C>T MANE Select	ENSP00000353393.4:p.Arg717Trp
ENST00000647125.1:c.*1815C>T	ENSP00000496062.1:n.*1815C>T
ENST00000360256.8:c.2149C>T	ENSP00000353393.4:p.Arg717Trp
NM_000132.3:c.2149C>T	NP_000123.1:p.Arg717Trp
XM_011531126.1:c.2044C>T	XP_011529428.1:p.Arg682Trp
NM_000132.4:c.2149C>T MANE Select	NP_000123.1:p.Arg717Trp