Canonical Allele Identifier: CA344004611
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995767A>C , CM000663.2:g.196995767A>C GRCh38
NC_000001.10:g.196964897A>C , CM000663.1:g.196964897A>C GRCh37
NC_000001.9:g.195231520A>C NCBI36
NG_016365.1:g.23231A>C , LRG_227:g.23231A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.403A>C ENSP00000514393.1:p.Lys135Gln
ENST00000699467.1:n.727A>C
ENST00000699468.1:c.-24-347A>C ENSP00000514394.1:n.-24-347A>C
ENST00000256785.5:c.658A>C MANE Select ENSP00000256785.4:p.Lys220Gln
ENST00000256785.4:c.658A>C ENSP00000256785.4:p.Lys220Gln
NM_030787.3:c.658A>C , LRG_227t1:c.658A>C NP_110414.1:p.Lys220Gln
XM_011510020.1:c.667A>C XP_011508322.1:p.Lys223Gln
XM_011510020.2:c.667A>C XP_011508322.1:p.Lys223Gln
NM_030787.4:c.658A>C MANE Select NP_110414.1:p.Lys220Gln