Canonical Allele Identifier: CA255193
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10301
ClinVar RCV Id: RCV000011014
dbSNP Id: rs387906460
MyVariant Identifiers: chrX:g.154132218del (hg19) chrX:g.154903943del (hg38)
PubMed: PMID:7728145
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154903949del , CM000685.2:g.154903949del GRCh38
NC_000023.10:g.154132224del , CM000685.1:g.154132224del GRCh37
NC_000023.9:g.153785418del NCBI36
NG_011403.1:g.123781del
NG_011403.2:g.123781del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5961del MANE Select ENSP00000353393.4:p.Glu1988ArgfsTer?
ENST00000360256.8:c.5961del ENSP00000353393.4:p.Glu1988ArgfsTer?
NM_000132.3:c.5961del NP_000123.1:p.Glu1988ArgfsTer?
XM_011531126.1:c.5856del XP_011529428.1:p.Glu1953ArgfsTer?
NM_000132.4:c.5961del MANE Select NP_000123.1:p.Glu1988ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'