Canonical Allele Identifier: CA344004653
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995773A>T , CM000663.2:g.196995773A>T GRCh38
NC_000001.10:g.196964903A>T , CM000663.1:g.196964903A>T GRCh37
NC_000001.9:g.195231526A>T NCBI36
NG_016365.1:g.23237A>T , LRG_227:g.23237A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.409A>T ENSP00000514393.1:p.Ile137Leu
ENST00000699467.1:n.733A>T
ENST00000699468.1:c.-24-341A>T ENSP00000514394.1:n.-24-341A>T
ENST00000256785.5:c.664A>T MANE Select ENSP00000256785.4:p.Ile222Leu
ENST00000256785.4:c.664A>T ENSP00000256785.4:p.Ile222Leu
NM_030787.3:c.664A>T , LRG_227t1:c.664A>T NP_110414.1:p.Ile222Leu
XM_011510020.1:c.673A>T XP_011508322.1:p.Ile225Leu
XM_011510020.2:c.673A>T XP_011508322.1:p.Ile225Leu
NM_030787.4:c.664A>T MANE Select NP_110414.1:p.Ile222Leu