Canonical Allele Identifier: CA344005377
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996034C>G , CM000663.2:g.196996034C>G GRCh38
NC_000001.10:g.196965164C>G , CM000663.1:g.196965164C>G GRCh37
NC_000001.9:g.195231787C>G NCBI36
NG_016365.1:g.23498C>G , LRG_227:g.23498C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.548C>G ENSP00000514393.1:p.Thr183Arg
ENST00000699467.1:n.872C>G
ENST00000699468.1:c.-24-80C>G ENSP00000514394.1:n.-24-80C>G
ENST00000256785.5:c.803C>G MANE Select ENSP00000256785.4:p.Thr268Arg
ENST00000256785.4:c.803C>G ENSP00000256785.4:p.Thr268Arg
NM_030787.3:c.803C>G , LRG_227t1:c.803C>G NP_110414.1:p.Thr268Arg
XM_011510020.1:c.812C>G XP_011508322.1:p.Thr271Arg
XM_011510020.2:c.812C>G XP_011508322.1:p.Thr271Arg
NM_030787.4:c.803C>G MANE Select NP_110414.1:p.Thr268Arg