Canonical Allele Identifier: CA1308055

Gene: CFHR5

Linked Data

• ClinVar Variation Id: 294549
• ClinVar RCV Id: RCV000334754 ; RCV003574731
• dbSNP Id: rs77159278
• ExAC: 1:196973810 G / A
• gnomAD v2: 1-196973810-G-A
• gnomAD v3: 1-197004680-G-A
• gnomAD v4: 1-197004680-G-A
• MyVariant Identifiers: chr1:g.196973810G>A (hg19) ; chr1:g.197004680G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197004680G>A , CM000663.2:g.197004680G>A	GRCh38
NC_000001.10:g.196973810G>A , CM000663.1:g.196973810G>A	GRCh37
NC_000001.9:g.195240433G>A	NCBI36
NG_016365.1:g.32144G>A , LRG_227:g.32144G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.1095G>A	ENSP00000514393.1:p.Gly365=
ENST00000699467.1:n.1419G>A
ENST00000699468.1:c.444G>A	ENSP00000514394.1:p.Gly148=
ENST00000699469.1:n.1038G>A
ENST00000699470.1:n.452G>A
ENST00000699471.1:n.772G>A
ENST00000256785.5:c.1350G>A MANE Select	ENSP00000256785.4:p.Gly450=
ENST00000256785.4:c.1350G>A	ENSP00000256785.4:p.Gly450=
NM_030787.3:c.1350G>A , LRG_227t1:c.1350G>A	NP_110414.1:p.Gly450=
XM_011510020.1:c.1359G>A	XP_011508322.1:p.Gly453=
XM_011510020.2:c.1359G>A	XP_011508322.1:p.Gly453=
NM_030787.4:c.1350G>A MANE Select	NP_110414.1:p.Gly450=