Canonical Allele Identifier: CA2516370187

Gene: CFHR5

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995994A>C , CM000663.2:g.196995994A>C	GRCh38
NC_000001.10:g.196965124A>C , CM000663.1:g.196965124A>C	GRCh37
NC_000001.9:g.195231747A>C	NCBI36
NG_016365.1:g.23458A>C , LRG_227:g.23458A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.536-28A>C	ENSP00000514393.1:n.536-28A>C
ENST00000699467.1:n.860-28A>C
ENST00000699468.1:c.-24-120A>C	ENSP00000514394.1:n.-24-120A>C
ENST00000256785.5:c.791-28A>C MANE Select	ENSP00000256785.4:n.791-28A>C
ENST00000256785.4:c.791-28A>C	ENSP00000256785.4:n.791-28A>C
NM_030787.3:c.791-28A>C , LRG_227t1:c.791-28A>C	NP_110414.1:n.791-28A>C
XM_011510020.1:c.800-28A>C	XP_011508322.1:n.800-28A>C
XM_011510020.2:c.800-28A>C	XP_011508322.1:n.800-28A>C
NM_030787.4:c.791-28A>C MANE Select	NP_110414.1:n.791-28A>C