Canonical Allele Identifier: CA255155
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10267
ClinVar RCV Id: RCV000010980
dbSNP Id: rs137852439
COSMIC: COSM78939 COSM78940
MyVariant Identifiers: chrX:g.154156922G>A (hg19) chrX:g.154928647G>A (hg38)
PubMed: PMID:1979502 PMID:8281136
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928647G>A , CM000685.2:g.154928647G>A GRCh38
NC_000023.10:g.154156922G>A , CM000685.1:g.154156922G>A GRCh37
NC_000023.9:g.153810116G>A NCBI36
NG_011403.1:g.99077C>T
NG_011403.2:g.99077C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5143C>T MANE Select ENSP00000353393.4:p.Arg1715Ter
ENST00000360256.8:c.5143C>T ENSP00000353393.4:p.Arg1715Ter
NM_000132.3:c.5143C>T NP_000123.1:p.Arg1715Ter
XM_011531126.1:c.5038C>T XP_011529428.1:p.Arg1680Ter
NM_000132.4:c.5143C>T MANE Select NP_000123.1:p.Arg1715Ter
Search 100 bp 5'
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