Canonical Allele Identifier: CA255112
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10222
dbSNP Id: rs137852416

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154957073G>A , CM000685.2:g.154957073G>A GRCh38
NC_000023.10:g.154185348G>A , CM000685.1:g.154185348G>A GRCh37
NC_000023.9:g.153838542G>A NCBI36
NG_011403.1:g.70651C>T
NG_011403.2:g.70651C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1636C>T MANE Select ENSP00000353393.4:p.Arg546Trp
ENST00000647125.1:c.*1512C>T ENSP00000496062.1:n.*1512C>T
ENST00000360256.8:c.1636C>T ENSP00000353393.4:p.Arg546Trp
NM_000132.3:c.1636C>T NP_000123.1:p.Arg546Trp
XM_011531126.1:c.1531C>T XP_011529428.1:p.Arg511Trp
NM_000132.4:c.1636C>T MANE Select NP_000123.1:p.Arg546Trp