Canonical Allele Identifier: CA873368227
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 973809
ClinVar RCV Id: RCV001265094
dbSNP Id: rs1356674990

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154860459_154860460del , CM000685.2:g.154860459_154860460del GRCh38
NC_000023.10:g.154088734_154088735del , CM000685.1:g.154088734_154088735del GRCh37
NC_000023.9:g.153741928_153741929del NCBI36
NG_011403.1:g.167268_167269del
NG_011403.2:g.167268_167269del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6876_6877del MANE Select ENSP00000353393.4:p.Phe2294SerfsTer?
ENST00000644698.1:c.609_610del ENSP00000495706.1:p.Phe205SerfsTer?
ENST00000330287.10:c.471_472del ENSP00000327895.6:p.Phe159SerfsTer?
ENST00000360256.8:c.6876_6877del ENSP00000353393.4:p.Phe2294SerfsTer?
NM_000132.3:c.6876_6877del NP_000123.1:p.Phe2294SerfsTer?
NM_019863.2:c.471_472del NP_063916.1:p.Phe159SerfsTer?
XM_011531126.1:c.6771_6772del XP_011529428.1:p.Phe2259SerfsTer?
NM_000132.4:c.6876_6877del MANE Select NP_000123.1:p.Phe2294SerfsTer?
NM_019863.3:c.471_472del NP_063916.1:p.Phe159SerfsTer?