Canonical Allele Identifier: CA2649656635
Gene: CFHR5 HGNC NCBI

Linked Data

gnomAD v4: 1-196995934-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196995934C>A , CM000663.2:g.196995934C>A GRCh38
NC_000001.10:g.196965064C>A , CM000663.1:g.196965064C>A GRCh37
NC_000001.9:g.195231687C>A NCBI36
NG_016365.1:g.23398C>A , LRG_227:g.23398C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.535+35C>A ENSP00000514393.1:n.535+35C>A
ENST00000699467.1:n.859+35C>A
ENST00000699468.1:c.-24-180C>A ENSP00000514394.1:n.-24-180C>A
ENST00000256785.5:c.790+35C>A MANE Select ENSP00000256785.4:n.790+35C>A
ENST00000256785.4:c.790+35C>A ENSP00000256785.4:n.790+35C>A
NM_030787.3:c.790+35C>A , LRG_227t1:c.790+35C>A NP_110414.1:n.790+35C>A
XM_011510020.1:c.799+35C>A XP_011508322.1:n.799+35C>A
XM_011510020.2:c.799+35C>A XP_011508322.1:n.799+35C>A
NM_030787.4:c.790+35C>A MANE Select NP_110414.1:n.790+35C>A
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