Canonical Allele Identifier: CA1307884

Gene: CFHR5

Linked Data

• dbSNP Id: rs771400518
• ExAC: 1:196965170 G / A
• gnomAD v2: 1-196965170-G-A
• gnomAD v4: 1-196996040-G-A
• COSMIC: COSM4819470 ; COSM4819471
• MyVariant Identifiers: chr1:g.196965170G>A (hg19) ; chr1:g.196996040G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196996040G>A , CM000663.2:g.196996040G>A	GRCh38
NC_000001.10:g.196965170G>A , CM000663.1:g.196965170G>A	GRCh37
NC_000001.9:g.195231793G>A	NCBI36
NG_016365.1:g.23504G>A , LRG_227:g.23504G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.554G>A	ENSP00000514393.1:p.Gly185Glu
ENST00000699467.1:n.878G>A
ENST00000699468.1:c.-24-74G>A	ENSP00000514394.1:n.-24-74G>A
ENST00000256785.5:c.809G>A MANE Select	ENSP00000256785.4:p.Gly270Glu
ENST00000256785.4:c.809G>A	ENSP00000256785.4:p.Gly270Glu
NM_030787.3:c.809G>A , LRG_227t1:c.809G>A	NP_110414.1:p.Gly270Glu
XM_011510020.1:c.818G>A	XP_011508322.1:p.Gly273Glu
XM_011510020.2:c.818G>A	XP_011508322.1:p.Gly273Glu
NM_030787.4:c.809G>A MANE Select	NP_110414.1:p.Gly270Glu