Canonical Allele Identifier: CA255162
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10274
ClinVar RCV Id: RCV000010987 RCV001552643 RCV003430635
dbSNP Id: rs137852442
gnomAD v4: X-154904998-C-T
MyVariant Identifiers: chrX:g.154133273C>T (hg19) chrX:g.154904998C>T (hg38)
ERepo: CA255162/MONDO:0010602/071
PubMed: PMID:1908096 PMID:7728145
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904998C>T , CM000685.2:g.154904998C>T GRCh38
NC_000023.10:g.154133273C>T , CM000685.1:g.154133273C>T GRCh37
NC_000023.9:g.153786467C>T NCBI36
NG_011403.1:g.122726G>A
NG_011403.2:g.122726G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5399G>A MANE Select ENSP00000353393.4:p.Arg1800His
ENST00000360256.8:c.5399G>A ENSP00000353393.4:p.Arg1800His
NM_000132.3:c.5399G>A NP_000123.1:p.Arg1800His
XM_011531126.1:c.5294G>A XP_011529428.1:p.Arg1765His
NM_000132.4:c.5399G>A MANE Select NP_000123.1:p.Arg1800His
Search 100 bp 5'
Search 100 bp 3'