Canonical Allele Identifier: CA344005581
Gene: CFHR5 HGNC NCBI

Linked Data

dbSNP Id: rs1653983376

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996074G>C , CM000663.2:g.196996074G>C GRCh38
NC_000001.10:g.196965204G>C , CM000663.1:g.196965204G>C GRCh37
NC_000001.9:g.195231827G>C NCBI36
NG_016365.1:g.23538G>C , LRG_227:g.23538G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.588G>C ENSP00000514393.1:p.Gln196His
ENST00000699467.1:n.912G>C
ENST00000699468.1:c.-24-40G>C ENSP00000514394.1:n.-24-40G>C
ENST00000256785.5:c.843G>C MANE Select ENSP00000256785.4:p.Gln281His
ENST00000256785.4:c.843G>C ENSP00000256785.4:p.Gln281His
NM_030787.3:c.843G>C , LRG_227t1:c.843G>C NP_110414.1:p.Gln281His
XM_011510020.1:c.852G>C XP_011508322.1:p.Gln284His
XM_011510020.2:c.852G>C XP_011508322.1:p.Gln284His
NM_030787.4:c.843G>C MANE Select NP_110414.1:p.Gln281His