Canonical Allele Identifier: CA255166
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10278
ClinVar RCV Id: RCV000010991
dbSNP Id: rs137852445

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154904975G>A , CM000685.2:g.154904975G>A GRCh38
NC_000023.10:g.154133250G>A , CM000685.1:g.154133250G>A GRCh37
NC_000023.9:g.153786444G>A NCBI36
NG_011403.1:g.122749C>T
NG_011403.2:g.122749C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.5422C>T MANE Select ENSP00000353393.4:p.Leu1808Phe
ENST00000360256.8:c.5422C>T ENSP00000353393.4:p.Leu1808Phe
NM_000132.3:c.5422C>T NP_000123.1:p.Leu1808Phe
XM_011531126.1:c.5317C>T XP_011529428.1:p.Leu1773Phe
NM_000132.4:c.5422C>T MANE Select NP_000123.1:p.Leu1808Phe