Canonical Allele Identifier: CA344005423
Gene: CFHR5 HGNC NCBI

Linked Data

gnomAD v4: 1-196996044-C-A
MyVariant Identifiers: chr1:g.196965174C>A (hg19) chr1:g.196996044C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996044C>A , CM000663.2:g.196996044C>A GRCh38
NC_000001.10:g.196965174C>A , CM000663.1:g.196965174C>A GRCh37
NC_000001.9:g.195231797C>A NCBI36
NG_016365.1:g.23508C>A , LRG_227:g.23508C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.558C>A ENSP00000514393.1:p.Tyr186Ter
ENST00000699467.1:n.882C>A
ENST00000699468.1:c.-24-70C>A ENSP00000514394.1:n.-24-70C>A
ENST00000256785.5:c.813C>A MANE Select ENSP00000256785.4:p.Tyr271Ter
ENST00000256785.4:c.813C>A ENSP00000256785.4:p.Tyr271Ter
NM_030787.3:c.813C>A , LRG_227t1:c.813C>A NP_110414.1:p.Tyr271Ter
XM_011510020.1:c.822C>A XP_011508322.1:p.Tyr274Ter
XM_011510020.2:c.822C>A XP_011508322.1:p.Tyr274Ter
NM_030787.4:c.813C>A MANE Select NP_110414.1:p.Tyr271Ter
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