Canonical Allele Identifier: CA255174
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10284
ClinVar RCV Id: RCV000010997
dbSNP Id: rs28933677

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904839G>A , CM000685.2:g.154904839G>A GRCh38
NC_000023.10:g.154133114G>A , CM000685.1:g.154133114G>A GRCh37
NC_000023.9:g.153786308G>A NCBI36
NG_011403.1:g.122885C>T
NG_011403.2:g.122885C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.5558C>T MANE Select ENSP00000353393.4:p.Ala1853Val
ENST00000360256.8:c.5558C>T ENSP00000353393.4:p.Ala1853Val
NM_000132.3:c.5558C>T NP_000123.1:p.Ala1853Val
XM_011531126.1:c.5453C>T XP_011529428.1:p.Ala1818Val
NM_000132.4:c.5558C>T MANE Select NP_000123.1:p.Ala1853Val