Canonical Allele Identifier: CA255063
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10174
ClinVar RCV Id: RCV000010887
dbSNP Id: rs137852391

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154993127G>A , CM000685.2:g.154993127G>A GRCh38
NC_000023.10:g.154221402G>A , CM000685.1:g.154221402G>A GRCh37
NC_000023.9:g.153874596G>A NCBI36
NG_011403.1:g.34597C>T
NG_011403.2:g.34597C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.410C>T MANE Select ENSP00000353393.4:p.Thr137Ile
ENST00000647125.1:c.*196C>T ENSP00000496062.1:p.=
ENST00000360256.8:c.410C>T ENSP00000353393.4:p.Thr137Ile
ENST00000423959.5:c.305C>T ENSP00000409446.1:p.Thr102Ile
ENST00000453950.1:c.392C>T ENSP00000389153.1:p.Thr131Ile
NM_000132.3:c.410C>T NP_000123.1:p.Thr137Ile
XM_011531126.1:c.305C>T XP_011529428.1:p.Thr102Ile
NM_000132.4:c.410C>T MANE Select NP_000123.1:p.Thr137Ile