Canonical Allele Identifier: CA344005802
Gene: CFHR5 HGNC NCBI

Linked Data

dbSNP Id: rs775584151

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996114G>T , CM000663.2:g.196996114G>T GRCh38
NC_000001.10:g.196965244G>T , CM000663.1:g.196965244G>T GRCh37
NC_000001.9:g.195231867G>T NCBI36
NG_016365.1:g.23578G>T , LRG_227:g.23578G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.628G>T ENSP00000514393.1:p.Val210Leu
ENST00000699467.1:n.952G>T
ENST00000699468.1:c.-24G>T ENSP00000514394.1:n.-24G>T
ENST00000256785.5:c.883G>T MANE Select ENSP00000256785.4:p.Val295Leu
ENST00000256785.4:c.883G>T ENSP00000256785.4:p.Val295Leu
NM_030787.3:c.883G>T , LRG_227t1:c.883G>T NP_110414.1:p.Val295Leu
XM_011510020.1:c.892G>T XP_011508322.1:p.Val298Leu
XM_011510020.2:c.892G>T XP_011508322.1:p.Val298Leu
NM_030787.4:c.883G>T MANE Select NP_110414.1:p.Val295Leu