Canonical Allele Identifier: CA255026
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10125
ClinVar RCV Id: RCV000010838
dbSNP Id: rs137852364

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154966526G>A , CM000685.2:g.154966526G>A GRCh38
NC_000023.10:g.154194801G>A , CM000685.1:g.154194801G>A GRCh37
NC_000023.9:g.153847995G>A NCBI36
NG_011403.1:g.61198C>T
NG_011403.2:g.61198C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1171C>T MANE Select ENSP00000353393.4:p.Arg391Cys
ENST00000647125.1:c.*1047C>T ENSP00000496062.1:n.*1047C>T
ENST00000360256.8:c.1171C>T ENSP00000353393.4:p.Arg391Cys
NM_000132.3:c.1171C>T NP_000123.1:p.Arg391Cys
XM_011531126.1:c.1066C>T XP_011529428.1:p.Arg356Cys
NM_000132.4:c.1171C>T MANE Select NP_000123.1:p.Arg391Cys