Canonical Allele Identifier: CA255115
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10225
dbSNP Id: rs137852418

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154957060C>T , CM000685.2:g.154957060C>T GRCh38
NC_000023.10:g.154185335C>T , CM000685.1:g.154185335C>T GRCh37
NC_000023.9:g.153838529C>T NCBI36
NG_011403.1:g.70664G>A
NG_011403.2:g.70664G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.1649G>A MANE Select ENSP00000353393.4:p.Arg550His
ENST00000647125.1:c.*1525G>A ENSP00000496062.1:n.*1525G>A
ENST00000360256.8:c.1649G>A ENSP00000353393.4:p.Arg550His
NM_000132.3:c.1649G>A NP_000123.1:p.Arg550His
XM_011531126.1:c.1544G>A XP_011529428.1:p.Arg515His
NM_000132.4:c.1649G>A MANE Select NP_000123.1:p.Arg550His