Canonical Allele Identifier: CA344005886
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996124G>C , CM000663.2:g.196996124G>C GRCh38
NC_000001.10:g.196965254G>C , CM000663.1:g.196965254G>C GRCh37
NC_000001.9:g.195231877G>C NCBI36
NG_016365.1:g.23588G>C , LRG_227:g.23588G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.638G>C ENSP00000514393.1:p.Arg213Thr
ENST00000699467.1:n.962G>C
ENST00000699468.1:c.-14G>C ENSP00000514394.1:n.-14G>C
ENST00000256785.5:c.893G>C MANE Select ENSP00000256785.4:p.Arg298Thr
ENST00000256785.4:c.893G>C ENSP00000256785.4:p.Arg298Thr
NM_030787.3:c.893G>C , LRG_227t1:c.893G>C NP_110414.1:p.Arg298Thr
XM_011510020.1:c.902G>C XP_011508322.1:p.Arg301Thr
XM_011510020.2:c.902G>C XP_011508322.1:p.Arg301Thr
NM_030787.4:c.893G>C MANE Select NP_110414.1:p.Arg298Thr