Canonical Allele Identifier: CA1217885099
Gene: CFHR5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995898T= , CM000663.2:g.196995898T= GRCh38
NC_000001.10:g.196965028T= , CM000663.1:g.196965028T= GRCh37
NC_000001.9:g.195231651T= NCBI36
NG_016365.1:g.23362T= , LRG_227:g.23362T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.534T= ENSP00000514393.1:p.Val178=
ENST00000699467.1:n.858T=
ENST00000699468.1:c.-24-216T= ENSP00000514394.1:n.-24-216T=
ENST00000256785.5:c.789T= MANE Select ENSP00000256785.4:p.Val263=
ENST00000256785.4:c.789T= ENSP00000256785.4:p.Val263=
NM_030787.3:c.789T= , LRG_227t1:c.789T= NP_110414.1:p.Val263=
XM_011510020.1:c.798T= XP_011508322.1:p.Val266=
XM_011510020.2:c.798T= XP_011508322.1:p.Val266=
NM_030787.4:c.789T= MANE Select NP_110414.1:p.Val263=