Canonical Allele Identifier: CA344004449
Gene: CFHR5 HGNC NCBI

Linked Data

ClinVar Variation Id: 3064007
ClinVar RCV Id: RCV003988595
dbSNP Id: rs1034915976
gnomAD v2: 1-196964865-G-A
gnomAD v3: 1-196995735-G-A
gnomAD v4: 1-196995735-G-A
MyVariant Identifiers: chr1:g.196964865G>A (hg19) chr1:g.196995735G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995735G>A , CM000663.2:g.196995735G>A GRCh38
NC_000001.10:g.196964865G>A , CM000663.1:g.196964865G>A GRCh37
NC_000001.9:g.195231488G>A NCBI36
NG_016365.1:g.23199G>A , LRG_227:g.23199G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.371G>A ENSP00000514393.1:p.Gly124Asp
ENST00000699467.1:n.695G>A
ENST00000699468.1:c.-24-379G>A ENSP00000514394.1:n.-24-379G>A
ENST00000256785.5:c.626G>A MANE Select ENSP00000256785.4:p.Gly209Asp
ENST00000256785.4:c.626G>A ENSP00000256785.4:p.Gly209Asp
NM_030787.3:c.626G>A , LRG_227t1:c.626G>A NP_110414.1:p.Gly209Asp
XM_011510020.1:c.635G>A XP_011508322.1:p.Gly212Asp
XM_011510020.2:c.635G>A XP_011508322.1:p.Gly212Asp
NM_030787.4:c.626G>A MANE Select NP_110414.1:p.Gly209Asp
Search 100 bp 5'
Search 100 bp 3'