Canonical Allele Identifier: CA255052
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10163
ClinVar RCV Id: RCV000010876
dbSNP Id: rs137852380

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154997095C>T , CM000685.2:g.154997095C>T GRCh38
NC_000023.10:g.154225370C>T , CM000685.1:g.154225370C>T GRCh37
NC_000023.9:g.153878564C>T NCBI36
NG_011403.1:g.30629G>A
NG_011403.2:g.30629G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.266G>A MANE Select ENSP00000353393.4:p.Gly89Asp
ENST00000647125.1:c.*52G>A ENSP00000496062.1:p.=
ENST00000360256.8:c.266G>A ENSP00000353393.4:p.Gly89Asp
ENST00000423959.5:c.161G>A ENSP00000409446.1:p.Gly54Asp
ENST00000453950.1:c.248G>A ENSP00000389153.1:p.Gly83Asp
NM_000132.3:c.266G>A NP_000123.1:p.Gly89Asp
XM_011531126.1:c.161G>A XP_011529428.1:p.Gly54Asp
NM_000132.4:c.266G>A MANE Select NP_000123.1:p.Gly89Asp