Canonical Allele Identifier: CA2499226520
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1098538
ClinVar RCV Id: RCV001420472
dbSNP Id: rs2124140985

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154993044del , CM000685.2:g.154993044del GRCh38
NC_000023.10:g.154221319del , CM000685.1:g.154221319del GRCh37
NC_000023.9:g.153874513del NCBI36
NG_011403.1:g.34681del
NG_011403.2:g.34681del

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.494del MANE Select ENSP00000353393.4:p.Pro165GlnfsTer20
ENST00000647125.1:c.*280del ENSP00000496062.1:n.*280del
ENST00000360256.8:c.494del ENSP00000353393.4:p.Pro165GlnfsTer20
ENST00000423959.5:c.389del ENSP00000409446.1:p.Pro130GlnfsTer20
ENST00000453950.1:c.476del ENSP00000389153.1:p.Pro159GlnfsTer?
NM_000132.3:c.494del NP_000123.1:p.Pro165GlnfsTer20
XM_011531126.1:c.389del XP_011529428.1:p.Pro130GlnfsTer20
NM_000132.4:c.494del MANE Select NP_000123.1:p.Pro165GlnfsTer20