Canonical Allele Identifier: CA344005051
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995854A>C , CM000663.2:g.196995854A>C GRCh38
NC_000001.10:g.196964984A>C , CM000663.1:g.196964984A>C GRCh37
NC_000001.9:g.195231607A>C NCBI36
NG_016365.1:g.23318A>C , LRG_227:g.23318A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.490A>C ENSP00000514393.1:p.Ile164Leu
ENST00000699467.1:n.814A>C
ENST00000699468.1:c.-24-260A>C ENSP00000514394.1:n.-24-260A>C
ENST00000256785.5:c.745A>C MANE Select ENSP00000256785.4:p.Ile249Leu
ENST00000256785.4:c.745A>C ENSP00000256785.4:p.Ile249Leu
NM_030787.3:c.745A>C , LRG_227t1:c.745A>C NP_110414.1:p.Ile249Leu
XM_011510020.1:c.754A>C XP_011508322.1:p.Ile252Leu
XM_011510020.2:c.754A>C XP_011508322.1:p.Ile252Leu
NM_030787.4:c.745A>C MANE Select NP_110414.1:p.Ile249Leu