Canonical Allele Identifier: CA120919

Gene: F8

Linked Data

• ClinVar Variation Id: 10114
• ClinVar RCV Id: RCV000010827 ; RCV000010826 ; RCV001092277
• dbSNP Id: rs111033613
• gnomAD v3: X-154928668-G-A
• gnomAD v4: X-154928668-G-A
• MyVariant Identifiers: chrX:g.154156943G>A (hg19) ; chrX:g.154928668G>A (hg38)
• PubMed: PMID:1569180 ; PMID:1569181 ; PMID:2104766 ; PMID:2986011

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154928668G>A , CM000685.2:g.154928668G>A	GRCh38
NC_000023.10:g.154156943G>A , CM000685.1:g.154156943G>A	GRCh37
NC_000023.9:g.153810137G>A	NCBI36
NG_011403.1:g.99056C>T
NG_011403.2:g.99056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.5122C>T MANE Select	ENSP00000353393.4:p.Arg1708Cys
ENST00000360256.8:c.5122C>T	ENSP00000353393.4:p.Arg1708Cys
NM_000132.3:c.5122C>T	NP_000123.1:p.Arg1708Cys
XM_011531126.1:c.5017C>T	XP_011529428.1:p.Arg1673Cys
NM_000132.4:c.5122C>T MANE Select	NP_000123.1:p.Arg1708Cys