Canonical Allele Identifier: CA1217885200

Gene: CFHR5

Linked Data

• dbSNP Id: rs1653985488

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196996129_196996131dup , CM000663.2:g.196996129_196996131dup	GRCh38
NC_000001.10:g.196965259_196965261dup , CM000663.1:g.196965259_196965261dup	GRCh37
NC_000001.9:g.195231882_195231884dup	NCBI36
NG_016365.1:g.23593_23595dup , LRG_227:g.23593_23595dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.643_645dup	ENSP00000514393.1:p.Glu215_Tyr216insGlu
ENST00000699467.1:n.967_969dup
ENST00000699468.1:c.-9_-7dup	ENSP00000514394.1:n.-9_-7dup
ENST00000256785.5:c.898_900dup MANE Select	ENSP00000256785.4:p.Glu300_Tyr301insGlu
ENST00000256785.4:c.898_900dup	ENSP00000256785.4:p.Glu300_Tyr301insGlu
NM_030787.3:c.898_900dup , LRG_227t1:c.898_900dup	NP_110414.1:p.Glu300_Tyr301insGlu
XM_011510020.1:c.907_909dup	XP_011508322.1:p.Glu303_Tyr304insGlu
XM_011510020.2:c.907_909dup	XP_011508322.1:p.Glu303_Tyr304insGlu
NM_030787.4:c.898_900dup MANE Select	NP_110414.1:p.Glu300_Tyr301insGlu