Canonical Allele Identifier: CA344004632
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995770G>C , CM000663.2:g.196995770G>C GRCh38
NC_000001.10:g.196964900G>C , CM000663.1:g.196964900G>C GRCh37
NC_000001.9:g.195231523G>C NCBI36
NG_016365.1:g.23234G>C , LRG_227:g.23234G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.406G>C ENSP00000514393.1:p.Glu136Gln
ENST00000699467.1:n.730G>C
ENST00000699468.1:c.-24-344G>C ENSP00000514394.1:n.-24-344G>C
ENST00000256785.5:c.661G>C MANE Select ENSP00000256785.4:p.Glu221Gln
ENST00000256785.4:c.661G>C ENSP00000256785.4:p.Glu221Gln
NM_030787.3:c.661G>C , LRG_227t1:c.661G>C NP_110414.1:p.Glu221Gln
XM_011510020.1:c.670G>C XP_011508322.1:p.Glu224Gln
XM_011510020.2:c.670G>C XP_011508322.1:p.Glu224Gln
NM_030787.4:c.661G>C MANE Select NP_110414.1:p.Glu221Gln