Canonical Allele Identifier: CA344005405
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996039G>C , CM000663.2:g.196996039G>C GRCh38
NC_000001.10:g.196965169G>C , CM000663.1:g.196965169G>C GRCh37
NC_000001.9:g.195231792G>C NCBI36
NG_016365.1:g.23503G>C , LRG_227:g.23503G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.553G>C ENSP00000514393.1:p.Gly185Arg
ENST00000699467.1:n.877G>C
ENST00000699468.1:c.-24-75G>C ENSP00000514394.1:n.-24-75G>C
ENST00000256785.5:c.808G>C MANE Select ENSP00000256785.4:p.Gly270Arg
ENST00000256785.4:c.808G>C ENSP00000256785.4:p.Gly270Arg
NM_030787.3:c.808G>C , LRG_227t1:c.808G>C NP_110414.1:p.Gly270Arg
XM_011510020.1:c.817G>C XP_011508322.1:p.Gly273Arg
XM_011510020.2:c.817G>C XP_011508322.1:p.Gly273Arg
NM_030787.4:c.808G>C MANE Select NP_110414.1:p.Gly270Arg