Canonical Allele Identifier: CA255071
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10185
ClinVar RCV Id: RCV000010898
dbSNP Id: rs137852398

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154969543C>T , CM000685.2:g.154969543C>T GRCh38
NC_000023.10:g.154197818C>T , CM000685.1:g.154197818C>T GRCh37
NC_000023.9:g.153851012C>T NCBI36
NG_011403.1:g.58181G>A
NG_011403.2:g.58181G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.797G>A MANE Select ENSP00000353393.4:p.Gly266Glu
ENST00000647125.1:c.*673G>A ENSP00000496062.1:n.*673G>A
ENST00000360256.8:c.797G>A ENSP00000353393.4:p.Gly266Glu
NM_000132.3:c.797G>A NP_000123.1:p.Gly266Glu
XM_011531126.1:c.692G>A XP_011529428.1:p.Gly231Glu
NM_000132.4:c.797G>A MANE Select NP_000123.1:p.Gly266Glu