Canonical Allele Identifier: CA344004711
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995783A>G , CM000663.2:g.196995783A>G GRCh38
NC_000001.10:g.196964913A>G , CM000663.1:g.196964913A>G GRCh37
NC_000001.9:g.195231536A>G NCBI36
NG_016365.1:g.23247A>G , LRG_227:g.23247A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.419A>G ENSP00000514393.1:p.Glu140Gly
ENST00000699467.1:n.743A>G
ENST00000699468.1:c.-24-331A>G ENSP00000514394.1:n.-24-331A>G
ENST00000256785.5:c.674A>G MANE Select ENSP00000256785.4:p.Glu225Gly
ENST00000256785.4:c.674A>G ENSP00000256785.4:p.Glu225Gly
NM_030787.3:c.674A>G , LRG_227t1:c.674A>G NP_110414.1:p.Glu225Gly
XM_011510020.1:c.683A>G XP_011508322.1:p.Glu228Gly
XM_011510020.2:c.683A>G XP_011508322.1:p.Glu228Gly
NM_030787.4:c.674A>G MANE Select NP_110414.1:p.Glu225Gly