Canonical Allele Identifier: CA344005702
Gene: CFHR5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196965224A>G (hg19) chr1:g.196996094A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996094A>G , CM000663.2:g.196996094A>G GRCh38
NC_000001.10:g.196965224A>G , CM000663.1:g.196965224A>G GRCh37
NC_000001.9:g.195231847A>G NCBI36
NG_016365.1:g.23558A>G , LRG_227:g.23558A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.608A>G ENSP00000514393.1:p.Gln203Arg
ENST00000699467.1:n.932A>G
ENST00000699468.1:c.-24-20A>G ENSP00000514394.1:n.-24-20A>G
ENST00000256785.5:c.863A>G MANE Select ENSP00000256785.4:p.Gln288Arg
ENST00000256785.4:c.863A>G ENSP00000256785.4:p.Gln288Arg
NM_030787.3:c.863A>G , LRG_227t1:c.863A>G NP_110414.1:p.Gln288Arg
XM_011510020.1:c.872A>G XP_011508322.1:p.Gln291Arg
XM_011510020.2:c.872A>G XP_011508322.1:p.Gln291Arg
NM_030787.4:c.863A>G MANE Select NP_110414.1:p.Gln288Arg
Search 100 bp 5'
Search 100 bp 3'