Canonical Allele Identifier: CA344004620

Gene: CFHR5

Linked Data

• gnomAD v4: 1-196995768-A-G
• MyVariant Identifiers: chr1:g.196964898A>G (hg19) ; chr1:g.196995768A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995768A>G , CM000663.2:g.196995768A>G	GRCh38
NC_000001.10:g.196964898A>G , CM000663.1:g.196964898A>G	GRCh37
NC_000001.9:g.195231521A>G	NCBI36
NG_016365.1:g.23232A>G , LRG_227:g.23232A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.404A>G	ENSP00000514393.1:p.Lys135Arg
ENST00000699467.1:n.728A>G
ENST00000699468.1:c.-24-346A>G	ENSP00000514394.1:n.-24-346A>G
ENST00000256785.5:c.659A>G MANE Select	ENSP00000256785.4:p.Lys220Arg
ENST00000256785.4:c.659A>G	ENSP00000256785.4:p.Lys220Arg
NM_030787.3:c.659A>G , LRG_227t1:c.659A>G	NP_110414.1:p.Lys220Arg
XM_011510020.1:c.668A>G	XP_011508322.1:p.Lys223Arg
XM_011510020.2:c.668A>G	XP_011508322.1:p.Lys223Arg
NM_030787.4:c.659A>G MANE Select	NP_110414.1:p.Lys220Arg