Canonical Allele Identifier: CA344005608
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996079C>T , CM000663.2:g.196996079C>T GRCh38
NC_000001.10:g.196965209C>T , CM000663.1:g.196965209C>T GRCh37
NC_000001.9:g.195231832C>T NCBI36
NG_016365.1:g.23543C>T , LRG_227:g.23543C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.593C>T ENSP00000514393.1:p.Ser198Phe
ENST00000699467.1:n.917C>T
ENST00000699468.1:c.-24-35C>T ENSP00000514394.1:n.-24-35C>T
ENST00000256785.5:c.848C>T MANE Select ENSP00000256785.4:p.Ser283Phe
ENST00000256785.4:c.848C>T ENSP00000256785.4:p.Ser283Phe
NM_030787.3:c.848C>T , LRG_227t1:c.848C>T NP_110414.1:p.Ser283Phe
XM_011510020.1:c.857C>T XP_011508322.1:p.Ser286Phe
XM_011510020.2:c.857C>T XP_011508322.1:p.Ser286Phe
NM_030787.4:c.848C>T MANE Select NP_110414.1:p.Ser283Phe