Canonical Allele Identifier: CA255053
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10164
ClinVar RCV Id: RCV000010877
dbSNP Id: rs137852381

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154997086C>A , CM000685.2:g.154997086C>A GRCh38
NC_000023.10:g.154225361C>A , CM000685.1:g.154225361C>A GRCh37
NC_000023.9:g.153878555C>A NCBI36
NG_011403.1:g.30638G>T
NG_011403.2:g.30638G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.275G>T MANE Select ENSP00000353393.4:p.Gly92Val
ENST00000647125.1:c.*61G>T ENSP00000496062.1:p.=
ENST00000360256.8:c.275G>T ENSP00000353393.4:p.Gly92Val
ENST00000423959.5:c.170G>T ENSP00000409446.1:p.Gly57Val
ENST00000453950.1:c.257G>T ENSP00000389153.1:p.Gly86Val
NM_000132.3:c.275G>T NP_000123.1:p.Gly92Val
XM_011531126.1:c.170G>T XP_011529428.1:p.Gly57Val
NM_000132.4:c.275G>T MANE Select NP_000123.1:p.Gly92Val