Canonical Allele Identifier: CA344005141

Gene: CFHR5

Linked Data

• gnomAD v4: 1-196995870-G-A
• MyVariant Identifiers: chr1:g.196965000G>A (hg19) ; chr1:g.196995870G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995870G>A , CM000663.2:g.196995870G>A	GRCh38
NC_000001.10:g.196965000G>A , CM000663.1:g.196965000G>A	GRCh37
NC_000001.9:g.195231623G>A	NCBI36
NG_016365.1:g.23334G>A , LRG_227:g.23334G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.506G>A	ENSP00000514393.1:p.Gly169Glu
ENST00000699467.1:n.830G>A
ENST00000699468.1:c.-24-244G>A	ENSP00000514394.1:n.-24-244G>A
ENST00000256785.5:c.761G>A MANE Select	ENSP00000256785.4:p.Gly254Glu
ENST00000256785.4:c.761G>A	ENSP00000256785.4:p.Gly254Glu
NM_030787.3:c.761G>A , LRG_227t1:c.761G>A	NP_110414.1:p.Gly254Glu
XM_011510020.1:c.770G>A	XP_011508322.1:p.Gly257Glu
XM_011510020.2:c.770G>A	XP_011508322.1:p.Gly257Glu
NM_030787.4:c.761G>A MANE Select	NP_110414.1:p.Gly254Glu