Canonical Allele Identifier: CA1144050179
Gene: CFHR5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996110C= , CM000663.2:g.196996110C= GRCh38
NC_000001.10:g.196965240C= , CM000663.1:g.196965240C= GRCh37
NC_000001.9:g.195231863C= NCBI36
NG_016365.1:g.23574C= , LRG_227:g.23574C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.624C= ENSP00000514393.1:p.Val208=
ENST00000699467.1:n.948C=
ENST00000699468.1:c.-24-4C= ENSP00000514394.1:n.-24-4C=
ENST00000256785.5:c.879C= MANE Select ENSP00000256785.4:p.Val293=
ENST00000256785.4:c.879C= ENSP00000256785.4:p.Val293=
NM_030787.3:c.879C= , LRG_227t1:c.879C= NP_110414.1:p.Val293=
XM_011510020.1:c.888C= XP_011508322.1:p.Val296=
XM_011510020.2:c.888C= XP_011508322.1:p.Val296=
NM_030787.4:c.879C= MANE Select NP_110414.1:p.Val293=