Canonical Allele Identifier: CA1234452
Gene: F5 HGNC NCBI

Linked Data

ClinVar Variation Id: 874623
dbSNP Id: rs200532195
COSMIC: COSM899297

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169555279G>A , CM000663.2:g.169555279G>A GRCh38
NC_000001.10:g.169524517G>A , CM000663.1:g.169524517G>A GRCh37
NC_000001.9:g.167791141G>A NCBI36
NG_011806.1:g.36253C>T , LRG_553:g.36253C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367797.9:c.1021C>T MANE Select ENSP00000356771.3:p.Arg341Cys
ENST00000367796.3:c.1021C>T ENSP00000356770.3:p.Arg341Cys
ENST00000367797.7:c.1021C>T ENSP00000356771.3:p.Arg341Cys
NM_000130.4:c.1021C>T , LRG_553t1:c.1021C>T NP_000121.2:p.Arg341Cys
XM_017000660.2:c.610C>T XP_016856149.1:p.Arg204Cys
NM_000130.5:c.1021C>T MANE Select NP_000121.2:p.Arg341Cys