Canonical Allele Identifier: CA255197
Gene: F8 HGNC NCBI

Linked Data

ClinVar Variation Id: 10304
ClinVar RCV Id: RCV000011017
dbSNP Id: rs137852453

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154902120G>A , CM000685.2:g.154902120G>A GRCh38
NC_000023.10:g.154130395G>A , CM000685.1:g.154130395G>A GRCh37
NC_000023.9:g.153783589G>A NCBI36
NG_011403.1:g.125604C>T
NG_011403.2:g.125604C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360256.9:c.6046C>T MANE Select ENSP00000353393.4:p.Arg2016Trp
ENST00000360256.8:c.6046C>T ENSP00000353393.4:p.Arg2016Trp
NM_000132.3:c.6046C>T NP_000123.1:p.Arg2016Trp
XM_011531126.1:c.5941C>T XP_011529428.1:p.Arg1981Trp
NM_000132.4:c.6046C>T MANE Select NP_000123.1:p.Arg2016Trp