Canonical Allele Identifier: CA344004485
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995744C>G , CM000663.2:g.196995744C>G GRCh38
NC_000001.10:g.196964874C>G , CM000663.1:g.196964874C>G GRCh37
NC_000001.9:g.195231497C>G NCBI36
NG_016365.1:g.23208C>G , LRG_227:g.23208C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.380C>G ENSP00000514393.1:p.Pro127Arg
ENST00000699467.1:n.704C>G
ENST00000699468.1:c.-24-370C>G ENSP00000514394.1:n.-24-370C>G
ENST00000256785.5:c.635C>G MANE Select ENSP00000256785.4:p.Pro212Arg
ENST00000256785.4:c.635C>G ENSP00000256785.4:p.Pro212Arg
NM_030787.3:c.635C>G , LRG_227t1:c.635C>G NP_110414.1:p.Pro212Arg
XM_011510020.1:c.644C>G XP_011508322.1:p.Pro215Arg
XM_011510020.2:c.644C>G XP_011508322.1:p.Pro215Arg
NM_030787.4:c.635C>G MANE Select NP_110414.1:p.Pro212Arg