Canonical Allele Identifier: CA255038
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10145
ClinVar RCV Id: RCV000010858
dbSNP Id: rs137852372

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154966077G>A , CM000685.2:g.154966077G>A GRCh38
NC_000023.10:g.154194352G>A , CM000685.1:g.154194352G>A GRCh37
NC_000023.9:g.153847546G>A NCBI36
NG_011403.1:g.61647C>T
NG_011403.2:g.61647C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360256.9:c.1336C>T MANE Select ENSP00000353393.4:p.Arg446Ter
ENST00000647125.1:c.*1212C>T ENSP00000496062.1:p.=
ENST00000360256.8:c.1336C>T ENSP00000353393.4:p.Arg446Ter
ENST00000483822.2:n.156C>T
NM_000132.3:c.1336C>T NP_000123.1:p.Arg446Ter
XM_011531126.1:c.1231C>T XP_011529428.1:p.Arg411Ter
NM_000132.4:c.1336C>T MANE Select NP_000123.1:p.Arg446Ter