Canonical Allele Identifier: CA255043
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10149
ClinVar RCV Id: RCV000010862
dbSNP Id: rs137852376

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154954041A>G , CM000685.2:g.154954041A>G GRCh38
NC_000023.10:g.154182316A>G , CM000685.1:g.154182316A>G GRCh37
NC_000023.9:g.153835510A>G NCBI36
NG_011403.1:g.73683T>C
NG_011403.2:g.73683T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1754T>C MANE Select ENSP00000353393.4:p.Ile585Thr
ENST00000647125.1:c.*1630T>C ENSP00000496062.1:n.*1630T>C
ENST00000360256.8:c.1754T>C ENSP00000353393.4:p.Ile585Thr
NM_000132.3:c.1754T>C NP_000123.1:p.Ile585Thr
XM_011531126.1:c.1649T>C XP_011529428.1:p.Ile550Thr
NM_000132.4:c.1754T>C MANE Select NP_000123.1:p.Ile585Thr