Canonical Allele Identifier: CA1307892

Gene: CFHR5

Linked Data

• ClinVar Variation Id: 377177
• ClinVar RCV Id: RCV000438250 ; RCV001097729 ; RCV001821153 ; RCV002488868 ; RCV002294327
• dbSNP Id: rs139017763
• ExAC: 1:196965193 G / A
• gnomAD v2: 1-196965193-G-A
• gnomAD v3: 1-196996063-G-A
• gnomAD v4: 1-196996063-G-A
• MyVariant Identifiers: chr1:g.196965193G>A (hg19) ; chr1:g.196996063G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196996063G>A , CM000663.2:g.196996063G>A	GRCh38
NC_000001.10:g.196965193G>A , CM000663.1:g.196965193G>A	GRCh37
NC_000001.9:g.195231816G>A	NCBI36
NG_016365.1:g.23527G>A , LRG_227:g.23527G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.577G>A	ENSP00000514393.1:p.Gly193Ser
ENST00000699467.1:n.901G>A
ENST00000699468.1:c.-24-51G>A	ENSP00000514394.1:n.-24-51G>A
ENST00000256785.5:c.832G>A MANE Select	ENSP00000256785.4:p.Gly278Ser
ENST00000256785.4:c.832G>A	ENSP00000256785.4:p.Gly278Ser
NM_030787.3:c.832G>A , LRG_227t1:c.832G>A	NP_110414.1:p.Gly278Ser
XM_011510020.1:c.841G>A	XP_011508322.1:p.Gly281Ser
XM_011510020.2:c.841G>A	XP_011508322.1:p.Gly281Ser
NM_030787.4:c.832G>A MANE Select	NP_110414.1:p.Gly278Ser