Canonical Allele Identifier: CA344005832
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996120T>A , CM000663.2:g.196996120T>A GRCh38
NC_000001.10:g.196965250T>A , CM000663.1:g.196965250T>A GRCh37
NC_000001.9:g.195231873T>A NCBI36
NG_016365.1:g.23584T>A , LRG_227:g.23584T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.634T>A ENSP00000514393.1:p.Cys212Ser
ENST00000699467.1:n.958T>A
ENST00000699468.1:c.-18T>A ENSP00000514394.1:n.-18T>A
ENST00000256785.5:c.889T>A MANE Select ENSP00000256785.4:p.Cys297Ser
ENST00000256785.4:c.889T>A ENSP00000256785.4:p.Cys297Ser
NM_030787.3:c.889T>A , LRG_227t1:c.889T>A NP_110414.1:p.Cys297Ser
XM_011510020.1:c.898T>A XP_011508322.1:p.Cys300Ser
XM_011510020.2:c.898T>A XP_011508322.1:p.Cys300Ser
NM_030787.4:c.889T>A MANE Select NP_110414.1:p.Cys297Ser