Canonical Allele Identifier: CA344004962
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995834T>A , CM000663.2:g.196995834T>A GRCh38
NC_000001.10:g.196964964T>A , CM000663.1:g.196964964T>A GRCh37
NC_000001.9:g.195231587T>A NCBI36
NG_016365.1:g.23298T>A , LRG_227:g.23298T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.470T>A ENSP00000514393.1:p.Ile157Lys
ENST00000699467.1:n.794T>A
ENST00000699468.1:c.-24-280T>A ENSP00000514394.1:n.-24-280T>A
ENST00000256785.5:c.725T>A MANE Select ENSP00000256785.4:p.Ile242Lys
ENST00000256785.4:c.725T>A ENSP00000256785.4:p.Ile242Lys
NM_030787.3:c.725T>A , LRG_227t1:c.725T>A NP_110414.1:p.Ile242Lys
XM_011510020.1:c.734T>A XP_011508322.1:p.Ile245Lys
XM_011510020.2:c.734T>A XP_011508322.1:p.Ile245Lys
NM_030787.4:c.725T>A MANE Select NP_110414.1:p.Ile242Lys