Canonical Allele Identifier: CA344005080
Gene: CFHR5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196964989A>C (hg19) chr1:g.196995859A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995859A>C , CM000663.2:g.196995859A>C GRCh38
NC_000001.10:g.196964989A>C , CM000663.1:g.196964989A>C GRCh37
NC_000001.9:g.195231612A>C NCBI36
NG_016365.1:g.23323A>C , LRG_227:g.23323A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.495A>C ENSP00000514393.1:p.Gln165His
ENST00000699467.1:n.819A>C
ENST00000699468.1:c.-24-255A>C ENSP00000514394.1:n.-24-255A>C
ENST00000256785.5:c.750A>C MANE Select ENSP00000256785.4:p.Gln250His
ENST00000256785.4:c.750A>C ENSP00000256785.4:p.Gln250His
NM_030787.3:c.750A>C , LRG_227t1:c.750A>C NP_110414.1:p.Gln250His
XM_011510020.1:c.759A>C XP_011508322.1:p.Gln253His
XM_011510020.2:c.759A>C XP_011508322.1:p.Gln253His
NM_030787.4:c.750A>C MANE Select NP_110414.1:p.Gln250His
Search 100 bp 5'
Search 100 bp 3'