Canonical Allele Identifier: CA344004560
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995758G>T , CM000663.2:g.196995758G>T GRCh38
NC_000001.10:g.196964888G>T , CM000663.1:g.196964888G>T GRCh37
NC_000001.9:g.195231511G>T NCBI36
NG_016365.1:g.23222G>T , LRG_227:g.23222G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.394G>T ENSP00000514393.1:p.Gly132Cys
ENST00000699467.1:n.718G>T
ENST00000699468.1:c.-24-356G>T ENSP00000514394.1:n.-24-356G>T
ENST00000256785.5:c.649G>T MANE Select ENSP00000256785.4:p.Gly217Cys
ENST00000256785.4:c.649G>T ENSP00000256785.4:p.Gly217Cys
NM_030787.3:c.649G>T , LRG_227t1:c.649G>T NP_110414.1:p.Gly217Cys
XM_011510020.1:c.658G>T XP_011508322.1:p.Gly220Cys
XM_011510020.2:c.658G>T XP_011508322.1:p.Gly220Cys
NM_030787.4:c.649G>T MANE Select NP_110414.1:p.Gly217Cys