Canonical Allele Identifier: CA1307833
Gene: CFHR5 HGNC NCBI

Linked Data

ClinVar Variation Id: 226110
ClinVar RCV Id: RCV000211432
dbSNP Id: rs368209619
ExAC: 1:196964915 GA / G
gnomAD v2: 1-196964915-GA-G
gnomAD v3: 1-196995785-GA-G
gnomAD v4: 1-196995785-GA-G
MyVariant Identifiers: chr1:g.196964917del (hg19) chr1:g.196964916del (hg19) chr1:g.196995787del (hg38) chr1:g.196995786del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995787del , CM000663.2:g.196995787del GRCh38
NC_000001.10:g.196964917del , CM000663.1:g.196964917del GRCh37
NC_000001.9:g.195231540del NCBI36
NG_016365.1:g.23251del , LRG_227:g.23251del

Transcript Alleles

HGVS Amino-acid change
ENST00000699466.1:c.423del ENSP00000514393.1:p.Glu141AspfsTer7
ENST00000699467.1:n.747del
ENST00000699468.1:c.-24-327del ENSP00000514394.1:n.-24-327del
ENST00000256785.5:c.678del MANE Select ENSP00000256785.4:p.Glu226AspfsTer7
ENST00000256785.4:c.678del ENSP00000256785.4:p.Glu226AspfsTer7
NM_030787.3:c.678del , LRG_227t1:c.678del NP_110414.1:p.Glu226AspfsTer7
XM_011510020.1:c.687del XP_011508322.1:p.Glu229AspfsTer7
XM_011510020.2:c.687del XP_011508322.1:p.Glu229AspfsTer7
NM_030787.4:c.678del MANE Select NP_110414.1:p.Glu226AspfsTer7
Search 100 bp 5'
Search 100 bp 3'