Canonical Allele Identifier: CA344005756
Gene: CFHR5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996108G>T , CM000663.2:g.196996108G>T GRCh38
NC_000001.10:g.196965238G>T , CM000663.1:g.196965238G>T GRCh37
NC_000001.9:g.195231861G>T NCBI36
NG_016365.1:g.23572G>T , LRG_227:g.23572G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.622G>T ENSP00000514393.1:p.Val208Phe
ENST00000699467.1:n.946G>T
ENST00000699468.1:c.-24-6G>T ENSP00000514394.1:n.-24-6G>T
ENST00000256785.5:c.877G>T MANE Select ENSP00000256785.4:p.Val293Phe
ENST00000256785.4:c.877G>T ENSP00000256785.4:p.Val293Phe
NM_030787.3:c.877G>T , LRG_227t1:c.877G>T NP_110414.1:p.Val293Phe
XM_011510020.1:c.886G>T XP_011508322.1:p.Val296Phe
XM_011510020.2:c.886G>T XP_011508322.1:p.Val296Phe
NM_030787.4:c.877G>T MANE Select NP_110414.1:p.Val293Phe