Canonical Allele Identifier: CA255148
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10256
ClinVar RCV Id: RCV000010969 RCV002490352
dbSNP Id: rs387906452
MyVariant Identifiers: chrX:g.154157941_154157944del (hg19) chrX:g.154929666_154929669del (hg38)
ERepo: CA255148/MONDO:0010602/071
PubMed: PMID:8307558
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154929669_154929672del , CM000685.2:g.154929669_154929672del GRCh38
NC_000023.10:g.154157944_154157947del , CM000685.1:g.154157944_154157947del GRCh37
NC_000023.9:g.153811138_153811141del NCBI36
NG_011403.1:g.98055_98058del
NG_011403.2:g.98055_98058del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.4121_4124del MANE Select ENSP00000353393.4:p.Ile1374ThrfsTer?
ENST00000360256.8:c.4121_4124del ENSP00000353393.4:p.Ile1374ThrfsTer?
NM_000132.3:c.4121_4124del NP_000123.1:p.Ile1374ThrfsTer?
XM_011531126.1:c.4016_4019del XP_011529428.1:p.Ile1339ThrfsTer?
NM_000132.4:c.4121_4124del MANE Select NP_000123.1:p.Ile1374ThrfsTer?
Search 100 bp 5'
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