Canonical Allele Identifier: CA1307760

Gene: CFHR5

Linked Data

• ClinVar Variation Id: 294541
• ClinVar RCV Id: RCV000323455 ; RCV000956625 ; RCV001253431 ; RCV002294245 ; RCV002465613
• dbSNP Id: rs565457964
• ExAC: 1:196963258 C / CAA
• gnomAD v2: 1-196963258-C-CAA
• gnomAD v3: 1-196994128-C-CAA
• gnomAD v4: 1-196994128-C-CAA
• MyVariant Identifiers: chr1:g.196963264_196963265dupAA (hg19) ; chr1:g.196963258_196963259insAA (hg19) ; chr1:g.196994134_196994135dupAA (hg38) ; chr1:g.196994128_196994129insAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196994134_196994135dup , CM000663.2:g.196994134_196994135dup	GRCh38
NC_000001.10:g.196963264_196963265dup , CM000663.1:g.196963264_196963265dup	GRCh37
NC_000001.9:g.195229887_195229888dup	NCBI36
NG_016365.1:g.21598_21599dup , LRG_227:g.21598_21599dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.230_231dup	ENSP00000514393.1:p.Glu78LysfsTer10
ENST00000699467.1:n.554_555dup
ENST00000699468.1:c.-24-1980_-24-1979dup	ENSP00000514394.1:n.-24-1980_-24-1979dup
ENST00000256785.5:c.485_486dup MANE Select	ENSP00000256785.4:p.Glu163LysfsTer10
ENST00000256785.4:c.485_486dup	ENSP00000256785.4:p.Glu163LysfsTer10
NM_030787.3:c.485_486dup , LRG_227t1:c.485_486dup	NP_110414.1:p.Glu163LysfsTer10
XM_011510020.1:c.494_495dup	XP_011508322.1:p.Glu166LysfsTer10
XM_011510020.2:c.494_495dup	XP_011508322.1:p.Glu166LysfsTer10
NM_030787.4:c.485_486dup MANE Select	NP_110414.1:p.Glu163LysfsTer10