Canonical Allele Identifier: CA344005584
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996075C>A , CM000663.2:g.196996075C>A GRCh38
NC_000001.10:g.196965205C>A , CM000663.1:g.196965205C>A GRCh37
NC_000001.9:g.195231828C>A NCBI36
NG_016365.1:g.23539C>A , LRG_227:g.23539C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.589C>A ENSP00000514393.1:p.Pro197Thr
ENST00000699467.1:n.913C>A
ENST00000699468.1:c.-24-39C>A ENSP00000514394.1:n.-24-39C>A
ENST00000256785.5:c.844C>A MANE Select ENSP00000256785.4:p.Pro282Thr
ENST00000256785.4:c.844C>A ENSP00000256785.4:p.Pro282Thr
NM_030787.3:c.844C>A , LRG_227t1:c.844C>A NP_110414.1:p.Pro282Thr
XM_011510020.1:c.853C>A XP_011508322.1:p.Pro285Thr
XM_011510020.2:c.853C>A XP_011508322.1:p.Pro285Thr
NM_030787.4:c.844C>A MANE Select NP_110414.1:p.Pro282Thr