Canonical Allele Identifier: CA1307818

Gene: CFHR5

Linked Data

• ClinVar Variation Id: 279752
• ClinVar RCV Id: RCV000346086 ; RCV000407216 ; RCV001171349
• dbSNP Id: rs41299613
• ExAC: 1:196964861 T / C
• gnomAD v2: 1-196964861-T-C
• gnomAD v3: 1-196995731-T-C
• gnomAD v4: 1-196995731-T-C
• MyVariant Identifiers: chr1:g.196964861T>C (hg19) ; chr1:g.196995731T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995731T>C , CM000663.2:g.196995731T>C	GRCh38
NC_000001.10:g.196964861T>C , CM000663.1:g.196964861T>C	GRCh37
NC_000001.9:g.195231484T>C	NCBI36
NG_016365.1:g.23195T>C , LRG_227:g.23195T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.367T>C	ENSP00000514393.1:p.Cys123Arg
ENST00000699467.1:n.691T>C
ENST00000699468.1:c.-24-383T>C	ENSP00000514394.1:n.-24-383T>C
ENST00000256785.5:c.622T>C MANE Select	ENSP00000256785.4:p.Cys208Arg
ENST00000256785.4:c.622T>C	ENSP00000256785.4:p.Cys208Arg
NM_030787.3:c.622T>C , LRG_227t1:c.622T>C	NP_110414.1:p.Cys208Arg
XM_011510020.1:c.631T>C	XP_011508322.1:p.Cys211Arg
XM_011510020.2:c.631T>C	XP_011508322.1:p.Cys211Arg
NM_030787.4:c.622T>C MANE Select	NP_110414.1:p.Cys208Arg