Canonical Allele Identifier: CA255064

Gene: F8

Linked Data

• ClinVar Variation Id: 10175
• ClinVar RCV Id: RCV000010888
• dbSNP Id: rs137852392
• MyVariant Identifiers: chrX:g.154221321C>A (hg19) ; chrX:g.154993046C>A (hg38)
• PubMed: PMID:1301932

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154993046C>A , CM000685.2:g.154993046C>A	GRCh38
NC_000023.10:g.154221321C>A , CM000685.1:g.154221321C>A	GRCh37
NC_000023.9:g.153874515C>A	NCBI36
NG_011403.1:g.34678G>T
NG_011403.2:g.34678G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360256.9:c.491G>T MANE Select	ENSP00000353393.4:p.Gly164Val
ENST00000647125.1:c.*277G>T	ENSP00000496062.1:n.*277G>T
ENST00000360256.8:c.491G>T	ENSP00000353393.4:p.Gly164Val
ENST00000423959.5:c.386G>T	ENSP00000409446.1:p.Gly129Val
ENST00000453950.1:c.473G>T	ENSP00000389153.1:p.Gly158Val
NM_000132.3:c.491G>T	NP_000123.1:p.Gly164Val
XM_011531126.1:c.386G>T	XP_011529428.1:p.Gly129Val
NM_000132.4:c.491G>T MANE Select	NP_000123.1:p.Gly164Val