Canonical Allele Identifier: CA1307731

Gene: CFHR5

Linked Data

• ClinVar Variation Id: 294539
• ClinVar RCV Id: RCV000376793 ; RCV000883968 ; RCV001726093 ; RCV002294243 ; RCV002494913
• dbSNP Id: rs140215003
• ExAC: 1:196953266 T / C
• gnomAD v2: 1-196953266-T-C
• gnomAD v3: 1-196984136-T-C
• gnomAD v4: 1-196984136-T-C
• MyVariant Identifiers: chr1:g.196953266T>C (hg19) ; chr1:g.196984136T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196984136T>C , CM000663.2:g.196984136T>C	GRCh38
NC_000001.10:g.196953266T>C , CM000663.1:g.196953266T>C	GRCh37
NC_000001.9:g.195219889T>C	NCBI36
NG_016365.1:g.11600T>C , LRG_227:g.11600T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.174T>C	ENSP00000514393.1:p.Thr58=
ENST00000699467.1:n.498T>C
ENST00000699468.1:c.-25+6456T>C	ENSP00000514394.1:n.-25+6456T>C
ENST00000256785.5:c.429T>C MANE Select	ENSP00000256785.4:p.Thr143=
ENST00000256785.4:c.429T>C	ENSP00000256785.4:p.Thr143=
NM_030787.3:c.429T>C , LRG_227t1:c.429T>C	NP_110414.1:p.Thr143=
XM_011510020.1:c.438T>C	XP_011508322.1:p.Thr146=
XM_011510020.2:c.438T>C	XP_011508322.1:p.Thr146=
NM_030787.4:c.429T>C MANE Select	NP_110414.1:p.Thr143=