Canonical Allele Identifier: CA35878547

Gene: CFHR5

Linked Data

• ClinVar Variation Id: 2196953
• ClinVar RCV Id: RCV002624577
• dbSNP Id: rs112327038
• gnomAD v2: 1-196965164-CAT-C
• gnomAD v3: 1-196996034-CAT-C
• gnomAD v4: 1-196996034-CAT-C
• MyVariant Identifiers: chr1:g.196965165_196965166del (hg19) ; chr1:g.196996035_196996036del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196996035_196996036del , CM000663.2:g.196996035_196996036del	GRCh38
NC_000001.10:g.196965165_196965166del , CM000663.1:g.196965165_196965166del	GRCh37
NC_000001.9:g.195231788_195231789del	NCBI36
NG_016365.1:g.23499_23500del , LRG_227:g.23499_23500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.549_550del	ENSP00000514393.1:p.Cys184TrpfsTer5
ENST00000699467.1:n.873_874del
ENST00000699468.1:c.-24-79_-24-78del	ENSP00000514394.1:n.-24-79_-24-78del
ENST00000256785.5:c.804_805del MANE Select	ENSP00000256785.4:p.Cys269TrpfsTer5
ENST00000256785.4:c.804_805del	ENSP00000256785.4:p.Cys269TrpfsTer5
NM_030787.3:c.804_805del , LRG_227t1:c.804_805del	NP_110414.1:p.Cys269TrpfsTer5
XM_011510020.1:c.813_814del	XP_011508322.1:p.Cys272TrpfsTer5
XM_011510020.2:c.813_814del	XP_011508322.1:p.Cys272TrpfsTer5
NM_030787.4:c.804_805del MANE Select	NP_110414.1:p.Cys269TrpfsTer5