Canonical Allele Identifier: CA1010880314

Gene: CFHR5

Linked Data

• dbSNP Id: rs1653982202
• gnomAD v3: 1-196996046-T-TAC
• gnomAD v4: 1-196996046-T-TAC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196996047_196996048dup , CM000663.2:g.196996047_196996048dup	GRCh38
NC_000001.10:g.196965177_196965178dup , CM000663.1:g.196965177_196965178dup	GRCh37
NC_000001.9:g.195231800_195231801dup	NCBI36
NG_016365.1:g.23511_23512dup , LRG_227:g.23511_23512dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.561_562dup	ENSP00000514393.1:p.Pro188HisfsTer24
ENST00000699467.1:n.885_886dup
ENST00000699468.1:c.-24-67_-24-66dup	ENSP00000514394.1:n.-24-67_-24-66dup
ENST00000256785.5:c.816_817dup MANE Select	ENSP00000256785.4:p.Pro273HisfsTer24
ENST00000256785.4:c.816_817dup	ENSP00000256785.4:p.Pro273HisfsTer24
NM_030787.3:c.816_817dup , LRG_227t1:c.816_817dup	NP_110414.1:p.Pro273HisfsTer24
XM_011510020.1:c.825_826dup	XP_011508322.1:p.Pro276HisfsTer24
XM_011510020.2:c.825_826dup	XP_011508322.1:p.Pro276HisfsTer24
NM_030787.4:c.816_817dup MANE Select	NP_110414.1:p.Pro273HisfsTer24