Canonical Allele Identifier: CA1307817

Gene: CFHR5

Linked Data

• dbSNP Id: rs777505173
• ExAC: 1:196964856 G / A
• gnomAD v2: 1-196964856-G-A
• gnomAD v4: 1-196995726-G-A
• COSMIC: COSM3480946 ; COSM3480947
• MyVariant Identifiers: chr1:g.196964856G>A (hg19) ; chr1:g.196995726G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995726G>A , CM000663.2:g.196995726G>A	GRCh38
NC_000001.10:g.196964856G>A , CM000663.1:g.196964856G>A	GRCh37
NC_000001.9:g.195231479G>A	NCBI36
NG_016365.1:g.23190G>A , LRG_227:g.23190G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.362G>A	ENSP00000514393.1:p.Arg121Gln
ENST00000699467.1:n.686G>A
ENST00000699468.1:c.-24-388G>A	ENSP00000514394.1:n.-24-388G>A
ENST00000256785.5:c.617G>A MANE Select	ENSP00000256785.4:p.Arg206Gln
ENST00000256785.4:c.617G>A	ENSP00000256785.4:p.Arg206Gln
NM_030787.3:c.617G>A , LRG_227t1:c.617G>A	NP_110414.1:p.Arg206Gln
XM_011510020.1:c.626G>A	XP_011508322.1:p.Arg209Gln
XM_011510020.2:c.626G>A	XP_011508322.1:p.Arg209Gln
NM_030787.4:c.617G>A MANE Select	NP_110414.1:p.Arg206Gln