Canonical Allele Identifier: CA1307579

Gene: CFHR5

Linked Data

• ClinVar Variation Id: 294531
• ClinVar RCV Id: RCV000402962 ; RCV001711767 ; RCV002294241 ; RCV003445843
• dbSNP Id: rs9427662
• ExAC: 1:196946775 T / C
• gnomAD v2: 1-196946775-T-C
• gnomAD v3: 1-196977645-T-C
• gnomAD v4: 1-196977645-T-C
• MyVariant Identifiers: chr1:g.196946775T>C (hg19) ; chr1:g.196977645T>C (hg38)
• PubMed: PMID:16299065

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196977645T>C , CM000663.2:g.196977645T>C	GRCh38
NC_000001.10:g.196946775T>C , CM000663.1:g.196946775T>C	GRCh37
NC_000001.9:g.195213398T>C	NCBI36
NG_016365.1:g.5109T>C , LRG_227:g.5109T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.-198+2531T>C	ENSP00000514393.1:n.-198+2531T>C
ENST00000699467.1:n.127+2057T>C
ENST00000699468.1:c.-60T>C	ENSP00000514394.1:n.-60T>C
ENST00000256785.5:c.-20T>C MANE Select	ENSP00000256785.4:n.-20T>C
ENST00000256785.4:c.-20T>C	ENSP00000256785.4:n.-20T>C
NM_030787.3:c.-20T>C , LRG_227t1:c.-20T>C	NP_110414.1:n.-20T>C
XM_011510020.1:c.67+2531T>C	XP_011508322.1:n.67+2531T>C
XM_011510020.2:c.67+2531T>C	XP_011508322.1:n.67+2531T>C
NM_030787.4:c.-20T>C MANE Select	NP_110414.1:n.-20T>C