Canonical Allele Identifier: CA1308138
Gene: CFHR5 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.197008614G>A
GRCh37 chr1:g.196977744G>A
gnomAD v2:
1:196977744 G / A
gnomAD v3:
1:197008614 G / A
gnomAD v4:
chr1-197008614-G-A
Joint Max Group AF 0.00509512 (EAS)
Genomes Max Group AF 0.00133599 (EAS)
Exomes Max Group AF 0.0054733 (EAS)
ClinVar RCV:
RCV000356916
RCV003574732
ClinVar Variation:
294552
dbSNP:
74323799
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197008614G>A , CM000663.2:g.197008614G>A GRCh38
NC_000001.10:g.196977744G>A , CM000663.1:g.196977744G>A GRCh37
NC_000001.9:g.195244367G>A NCBI36
NG_016365.1:g.36078G>A , LRG_227:g.36078G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.1386G>A ENSP00000514393.1:p.Ala462=
ENST00000699467.1:n.1710G>A
ENST00000699468.1:c.735G>A ENSP00000514394.1:p.Ala245=
ENST00000699469.1:n.1329G>A
ENST00000699470.1:n.743G>A
ENST00000699471.1:n.1063G>A
ENST00000256785.5:c.1641G>A MANE Select ENSP00000256785.4:p.Ala547=
ENST00000256785.4:c.1641G>A ENSP00000256785.4:p.Ala547=
NM_030787.3:c.1641G>A , LRG_227t1:c.1641G>A NP_110414.1:p.Ala547=
XM_011510020.1:c.1650G>A XP_011508322.1:p.Ala550=
XM_011510020.2:c.1650G>A XP_011508322.1:p.Ala550=
NM_030787.4:c.1641G>A MANE Select NP_110414.1:p.Ala547=
Search 100 bp 5'
Search 100 bp 3'