Canonical Allele Identifier: CA344004507
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995749C>G , CM000663.2:g.196995749C>G GRCh38
NC_000001.10:g.196964879C>G , CM000663.1:g.196964879C>G GRCh37
NC_000001.9:g.195231502C>G NCBI36
NG_016365.1:g.23213C>G , LRG_227:g.23213C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.385C>G ENSP00000514393.1:p.Leu129Val
ENST00000699467.1:n.709C>G
ENST00000699468.1:c.-24-365C>G ENSP00000514394.1:n.-24-365C>G
ENST00000256785.5:c.640C>G MANE Select ENSP00000256785.4:p.Leu214Val
ENST00000256785.4:c.640C>G ENSP00000256785.4:p.Leu214Val
NM_030787.3:c.640C>G , LRG_227t1:c.640C>G NP_110414.1:p.Leu214Val
XM_011510020.1:c.649C>G XP_011508322.1:p.Leu217Val
XM_011510020.2:c.649C>G XP_011508322.1:p.Leu217Val
NM_030787.4:c.640C>G MANE Select NP_110414.1:p.Leu214Val