Canonical Allele Identifier: CA2649656618

Gene: CFHR5

Linked Data

• gnomAD v4: 1-196995779-AAAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995781_196995783del , CM000663.2:g.196995781_196995783del	GRCh38
NC_000001.10:g.196964911_196964913del , CM000663.1:g.196964911_196964913del	GRCh37
NC_000001.9:g.195231534_195231536del	NCBI36
NG_016365.1:g.23245_23247del , LRG_227:g.23245_23247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.417_419del	ENSP00000514393.1:p.Glu140del
ENST00000699467.1:n.741_743del
ENST00000699468.1:c.-24-333_-24-331del	ENSP00000514394.1:n.-24-333_-24-331del
ENST00000256785.5:c.672_674del MANE Select	ENSP00000256785.4:p.Glu225del
ENST00000256785.4:c.672_674del	ENSP00000256785.4:p.Glu225del
NM_030787.3:c.672_674del , LRG_227t1:c.672_674del	NP_110414.1:p.Glu225del
XM_011510020.1:c.681_683del	XP_011508322.1:p.Glu228del
XM_011510020.2:c.681_683del	XP_011508322.1:p.Glu228del
NM_030787.4:c.672_674del MANE Select	NP_110414.1:p.Glu225del