Canonical Allele Identifier: CA1307818
Gene: CFHR5 HGNC NCBI

Linked Data

ClinVar Variation Id: 279752
dbSNP Id: rs41299613

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995731T>C , CM000663.2:g.196995731T>C GRCh38
NC_000001.10:g.196964861T>C , CM000663.1:g.196964861T>C GRCh37
NC_000001.9:g.195231484T>C NCBI36
NG_016365.1:g.23195T>C , LRG_227:g.23195T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.367T>C ENSP00000514393.1:p.Cys123Arg
ENST00000699467.1:n.691T>C
ENST00000699468.1:c.-24-383T>C ENSP00000514394.1:n.-24-383T>C
ENST00000256785.5:c.622T>C MANE Select ENSP00000256785.4:p.Cys208Arg
ENST00000256785.4:c.622T>C ENSP00000256785.4:p.Cys208Arg
NM_030787.3:c.622T>C , LRG_227t1:c.622T>C NP_110414.1:p.Cys208Arg
XM_011510020.1:c.631T>C XP_011508322.1:p.Cys211Arg
XM_011510020.2:c.631T>C XP_011508322.1:p.Cys211Arg
NM_030787.4:c.622T>C MANE Select NP_110414.1:p.Cys208Arg