Canonical Allele Identifier: CA255047
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10154
ClinVar RCV Id: RCV000010867
dbSNP Id: rs137852378

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.155022464T>A , CM000685.2:g.155022464T>A GRCh38
NC_000023.10:g.154250739T>A , CM000685.1:g.154250739T>A GRCh37
NC_000023.9:g.153903933T>A NCBI36
NG_011403.1:g.5260A>T
NG_011403.2:g.5260A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.89A>T MANE Select ENSP00000353393.4:p.Glu30Val
ENST00000647125.1:c.89A>T ENSP00000496062.1:p.Glu30Val
ENST00000360256.8:c.89A>T ENSP00000353393.4:p.Glu30Val
ENST00000423959.5:c.38+4316A>T ENSP00000409446.1:p.=
ENST00000453950.1:c.71A>T ENSP00000389153.1:p.Glu24Val
NM_000132.3:c.89A>T NP_000123.1:p.Glu30Val
XM_011531126.1:c.38+4316A>T XP_011529428.1:p.=
NM_000132.4:c.89A>T MANE Select NP_000123.1:p.Glu30Val