Canonical Allele Identifier: CA915951998
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 804140
ClinVar RCV Id: RCV000991023
dbSNP Id: rs1603433729
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154928856del , CM000685.2:g.154928856del GRCh38
NC_000023.10:g.154157131del , CM000685.1:g.154157131del GRCh37
NC_000023.9:g.153810325del NCBI36
NG_011403.1:g.98870del
NG_011403.2:g.98870del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.4936del MANE Select ENSP00000353393.4:p.Ala1646GlnfsTer17
ENST00000360256.8:c.4936del ENSP00000353393.4:p.Ala1646GlnfsTer17
NM_000132.3:c.4936del NP_000123.1:p.Ala1646GlnfsTer17
XM_011531126.1:c.4831del XP_011529428.1:p.Ala1611GlnfsTer17
NM_000132.4:c.4936del MANE Select NP_000123.1:p.Ala1646GlnfsTer17
Search 100 bp 5'
Search 100 bp 3'