Canonical Allele Identifier: CA344005434
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996046T>C , CM000663.2:g.196996046T>C GRCh38
NC_000001.10:g.196965176T>C , CM000663.1:g.196965176T>C GRCh37
NC_000001.9:g.195231799T>C NCBI36
NG_016365.1:g.23510T>C , LRG_227:g.23510T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.560T>C ENSP00000514393.1:p.Ile187Thr
ENST00000699467.1:n.884T>C
ENST00000699468.1:c.-24-68T>C ENSP00000514394.1:n.-24-68T>C
ENST00000256785.5:c.815T>C MANE Select ENSP00000256785.4:p.Ile272Thr
ENST00000256785.4:c.815T>C ENSP00000256785.4:p.Ile272Thr
NM_030787.3:c.815T>C , LRG_227t1:c.815T>C NP_110414.1:p.Ile272Thr
XM_011510020.1:c.824T>C XP_011508322.1:p.Ile275Thr
XM_011510020.2:c.824T>C XP_011508322.1:p.Ile275Thr
NM_030787.4:c.815T>C MANE Select NP_110414.1:p.Ile272Thr