Canonical Allele Identifier: CA344004368
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995723T>G , CM000663.2:g.196995723T>G GRCh38
NC_000001.10:g.196964853T>G , CM000663.1:g.196964853T>G GRCh37
NC_000001.9:g.195231476T>G NCBI36
NG_016365.1:g.23187T>G , LRG_227:g.23187T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.359T>G ENSP00000514393.1:p.Val120Gly
ENST00000699467.1:n.683T>G
ENST00000699468.1:c.-24-391T>G ENSP00000514394.1:n.-24-391T>G
ENST00000256785.5:c.614T>G MANE Select ENSP00000256785.4:p.Val205Gly
ENST00000256785.4:c.614T>G ENSP00000256785.4:p.Val205Gly
NM_030787.3:c.614T>G , LRG_227t1:c.614T>G NP_110414.1:p.Val205Gly
XM_011510020.1:c.623T>G XP_011508322.1:p.Val208Gly
XM_011510020.2:c.623T>G XP_011508322.1:p.Val208Gly
NM_030787.4:c.614T>G MANE Select NP_110414.1:p.Val205Gly