Canonical Allele Identifier: CA1307871

Gene: CFHR5

Linked Data

• dbSNP Id: rs752921511
• ExAC: 1:196965120 G / C
• gnomAD v2: 1-196965120-G-C
• gnomAD v3: 1-196995990-G-C
• gnomAD v4: 1-196995990-G-C
• MyVariant Identifiers: chr1:g.196965120G>C (hg19) ; chr1:g.196995990G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995990G>C , CM000663.2:g.196995990G>C	GRCh38
NC_000001.10:g.196965120G>C , CM000663.1:g.196965120G>C	GRCh37
NC_000001.9:g.195231743G>C	NCBI36
NG_016365.1:g.23454G>C , LRG_227:g.23454G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.536-32G>C	ENSP00000514393.1:n.536-32G>C
ENST00000699467.1:n.860-32G>C
ENST00000699468.1:c.-24-124G>C	ENSP00000514394.1:n.-24-124G>C
ENST00000256785.5:c.791-32G>C MANE Select	ENSP00000256785.4:n.791-32G>C
ENST00000256785.4:c.791-32G>C	ENSP00000256785.4:n.791-32G>C
NM_030787.3:c.791-32G>C , LRG_227t1:c.791-32G>C	NP_110414.1:n.791-32G>C
XM_011510020.1:c.800-32G>C	XP_011508322.1:n.800-32G>C
XM_011510020.2:c.800-32G>C	XP_011508322.1:n.800-32G>C
NM_030787.4:c.791-32G>C MANE Select	NP_110414.1:n.791-32G>C