Canonical Allele Identifier: CA255190
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10299
ClinVar RCV Id: RCV000011012
dbSNP Id: rs137852451
MyVariant Identifiers: chrX:g.154132241G>A (hg19) chrX:g.154903966G>A (hg38)
PubMed: PMID:7728145
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154903966G>A , CM000685.2:g.154903966G>A GRCh38
NC_000023.10:g.154132241G>A , CM000685.1:g.154132241G>A GRCh37
NC_000023.9:g.153785435G>A NCBI36
NG_011403.1:g.123758C>T
NG_011403.2:g.123758C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.5938C>T MANE Select ENSP00000353393.4:p.His1980Tyr
ENST00000360256.8:c.5938C>T ENSP00000353393.4:p.His1980Tyr
NM_000132.3:c.5938C>T NP_000123.1:p.His1980Tyr
XM_011531126.1:c.5833C>T XP_011529428.1:p.His1945Tyr
NM_000132.4:c.5938C>T MANE Select NP_000123.1:p.His1980Tyr
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