Canonical Allele Identifier: CA344005713
Gene: CFHR5 HGNC NCBI

Linked Data

dbSNP Id: rs777469135

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996096C>T , CM000663.2:g.196996096C>T GRCh38
NC_000001.10:g.196965226C>T , CM000663.1:g.196965226C>T GRCh37
NC_000001.9:g.195231849C>T NCBI36
NG_016365.1:g.23560C>T , LRG_227:g.23560C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.610C>T ENSP00000514393.1:p.His204Tyr
ENST00000699467.1:n.934C>T
ENST00000699468.1:c.-24-18C>T ENSP00000514394.1:n.-24-18C>T
ENST00000256785.5:c.865C>T MANE Select ENSP00000256785.4:p.His289Tyr
ENST00000256785.4:c.865C>T ENSP00000256785.4:p.His289Tyr
NM_030787.3:c.865C>T , LRG_227t1:c.865C>T NP_110414.1:p.His289Tyr
XM_011510020.1:c.874C>T XP_011508322.1:p.His292Tyr
XM_011510020.2:c.874C>T XP_011508322.1:p.His292Tyr
NM_030787.4:c.865C>T MANE Select NP_110414.1:p.His289Tyr