Canonical Allele Identifier: CA35878061

Gene: CFHR5

Linked Data

• dbSNP Id: rs780098144
• gnomAD v3: 1-196995593-CAT-C
• gnomAD v4: 1-196995593-CAT-C
• MyVariant Identifiers: chr1:g.196964724_196964725del (hg19) ; chr1:g.196995594_196995595del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995594_196995595del , CM000663.2:g.196995594_196995595del	GRCh38
NC_000001.10:g.196964724_196964725del , CM000663.1:g.196964724_196964725del	GRCh37
NC_000001.9:g.195231347_195231348del	NCBI36
NG_016365.1:g.23058_23059del , LRG_227:g.23058_23059del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.353-123_353-122del	ENSP00000514393.1:n.353-123_353-122del
ENST00000699467.1:n.677-123_677-122del
ENST00000699468.1:c.-24-520_-24-519del	ENSP00000514394.1:n.-24-520_-24-519del
ENST00000256785.5:c.608-123_608-122del MANE Select	ENSP00000256785.4:n.608-123_608-122del
ENST00000256785.4:c.608-123_608-122del	ENSP00000256785.4:n.608-123_608-122del
NM_030787.3:c.608-123_608-122del , LRG_227t1:c.608-123_608-122del	NP_110414.1:n.608-123_608-122del
XM_011510020.1:c.617-123_617-122del	XP_011508322.1:n.617-123_617-122del
XM_011510020.2:c.617-123_617-122del	XP_011508322.1:n.617-123_617-122del
NM_030787.4:c.608-123_608-122del MANE Select	NP_110414.1:n.608-123_608-122del