Canonical Allele Identifier: CA344004646

Gene: CFHR5

Linked Data

• dbSNP Id: rs1358455299
• gnomAD v3: 1-196995772-G-C
• gnomAD v4: 1-196995772-G-C
• MyVariant Identifiers: chr1:g.196964902G>C (hg19) ; chr1:g.196995772G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196995772G>C , CM000663.2:g.196995772G>C	GRCh38
NC_000001.10:g.196964902G>C , CM000663.1:g.196964902G>C	GRCh37
NC_000001.9:g.195231525G>C	NCBI36
NG_016365.1:g.23236G>C , LRG_227:g.23236G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699466.1:c.408G>C	ENSP00000514393.1:p.Glu136Asp
ENST00000699467.1:n.732G>C
ENST00000699468.1:c.-24-342G>C	ENSP00000514394.1:n.-24-342G>C
ENST00000256785.5:c.663G>C MANE Select	ENSP00000256785.4:p.Glu221Asp
ENST00000256785.4:c.663G>C	ENSP00000256785.4:p.Glu221Asp
NM_030787.3:c.663G>C , LRG_227t1:c.663G>C	NP_110414.1:p.Glu221Asp
XM_011510020.1:c.672G>C	XP_011508322.1:p.Glu224Asp
XM_011510020.2:c.672G>C	XP_011508322.1:p.Glu224Asp
NM_030787.4:c.663G>C MANE Select	NP_110414.1:p.Glu221Asp