Canonical Allele Identifier: CA344004722
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995785G>C , CM000663.2:g.196995785G>C GRCh38
NC_000001.10:g.196964915G>C , CM000663.1:g.196964915G>C GRCh37
NC_000001.9:g.195231538G>C NCBI36
NG_016365.1:g.23249G>C , LRG_227:g.23249G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.421G>C ENSP00000514393.1:p.Glu141Gln
ENST00000699467.1:n.745G>C
ENST00000699468.1:c.-24-329G>C ENSP00000514394.1:n.-24-329G>C
ENST00000256785.5:c.676G>C MANE Select ENSP00000256785.4:p.Glu226Gln
ENST00000256785.4:c.676G>C ENSP00000256785.4:p.Glu226Gln
NM_030787.3:c.676G>C , LRG_227t1:c.676G>C NP_110414.1:p.Glu226Gln
XM_011510020.1:c.685G>C XP_011508322.1:p.Glu229Gln
XM_011510020.2:c.685G>C XP_011508322.1:p.Glu229Gln
NM_030787.4:c.676G>C MANE Select NP_110414.1:p.Glu226Gln