Canonical Allele Identifier: CA344004497
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995747A>T , CM000663.2:g.196995747A>T GRCh38
NC_000001.10:g.196964877A>T , CM000663.1:g.196964877A>T GRCh37
NC_000001.9:g.195231500A>T NCBI36
NG_016365.1:g.23211A>T , LRG_227:g.23211A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.383A>T ENSP00000514393.1:p.Gln128Leu
ENST00000699467.1:n.707A>T
ENST00000699468.1:c.-24-367A>T ENSP00000514394.1:n.-24-367A>T
ENST00000256785.5:c.638A>T MANE Select ENSP00000256785.4:p.Gln213Leu
ENST00000256785.4:c.638A>T ENSP00000256785.4:p.Gln213Leu
NM_030787.3:c.638A>T , LRG_227t1:c.638A>T NP_110414.1:p.Gln213Leu
XM_011510020.1:c.647A>T XP_011508322.1:p.Gln216Leu
XM_011510020.2:c.647A>T XP_011508322.1:p.Gln216Leu
NM_030787.4:c.638A>T MANE Select NP_110414.1:p.Gln213Leu