Canonical Allele Identifier: CA1307937
Gene: CFHR5 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.196998150C>A
GRCh37 chr1:g.196967280C>A
gnomAD v2:
1:196967280 C / A
gnomAD v3:
1:196998150 C / A
gnomAD v4:
chr1-196998150-C-A
Joint Max Group AF 0.00078806 (SAS)
Genomes Max Group AF 0.0002819 (SAS)
Exomes Max Group AF 0.00079039 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196998150C>A , CM000663.2:g.196998150C>A GRCh38
NC_000001.10:g.196967280C>A , CM000663.1:g.196967280C>A GRCh37
NC_000001.9:g.195233903C>A NCBI36
NG_016365.1:g.25614C>A , LRG_227:g.25614C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.738C>A ENSP00000514393.1:p.Cys246Ter
ENST00000699467.1:n.1062C>A
ENST00000699468.1:c.87C>A ENSP00000514394.1:p.Cys29Ter
ENST00000699469.1:n.681C>A
ENST00000256785.5:c.993C>A MANE Select ENSP00000256785.4:p.Cys331Ter
ENST00000256785.4:c.993C>A ENSP00000256785.4:p.Cys331Ter
NM_030787.3:c.993C>A , LRG_227t1:c.993C>A NP_110414.1:p.Cys331Ter
XM_011510020.1:c.1002C>A XP_011508322.1:p.Cys334Ter
XM_011510020.2:c.1002C>A XP_011508322.1:p.Cys334Ter
NM_030787.4:c.993C>A MANE Select NP_110414.1:p.Cys331Ter
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