Canonical Allele Identifier: CA344005229

Gene: CFHR5

Linked Data

• dbSNP Id: rs1653978098
• gnomAD v3: 1-196995893-T-C
• gnomAD v4: 1-196995893-T-C
• MyVariant Identifiers: chr1:g.196965023T>C (hg19) ; chr1:g.196995893T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995893T>C , CM000663.2:g.196995893T>C	GRCh38
NC_000001.10:g.196965023T>C , CM000663.1:g.196965023T>C	GRCh37
NC_000001.9:g.195231646T>C	NCBI36
NG_016365.1:g.23357T>C , LRG_227:g.23357T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.529T>C	ENSP00000514393.1:p.Cys177Arg
ENST00000699467.1:n.853T>C
ENST00000699468.1:c.-24-221T>C	ENSP00000514394.1:n.-24-221T>C
ENST00000256785.5:c.784T>C MANE Select	ENSP00000256785.4:p.Cys262Arg
ENST00000256785.4:c.784T>C	ENSP00000256785.4:p.Cys262Arg
NM_030787.3:c.784T>C , LRG_227t1:c.784T>C	NP_110414.1:p.Cys262Arg
XM_011510020.1:c.793T>C	XP_011508322.1:p.Cys265Arg
XM_011510020.2:c.793T>C	XP_011508322.1:p.Cys265Arg
NM_030787.4:c.784T>C MANE Select	NP_110414.1:p.Cys262Arg