Canonical Allele Identifier: CA344005469
Gene: CFHR5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196965184C>A (hg19) chr1:g.196996054C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996054C>A , CM000663.2:g.196996054C>A GRCh38
NC_000001.10:g.196965184C>A , CM000663.1:g.196965184C>A GRCh37
NC_000001.9:g.195231807C>A NCBI36
NG_016365.1:g.23518C>A , LRG_227:g.23518C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.568C>A ENSP00000514393.1:p.Leu190Ile
ENST00000699467.1:n.892C>A
ENST00000699468.1:c.-24-60C>A ENSP00000514394.1:n.-24-60C>A
ENST00000256785.5:c.823C>A MANE Select ENSP00000256785.4:p.Leu275Ile
ENST00000256785.4:c.823C>A ENSP00000256785.4:p.Leu275Ile
NM_030787.3:c.823C>A , LRG_227t1:c.823C>A NP_110414.1:p.Leu275Ile
XM_011510020.1:c.832C>A XP_011508322.1:p.Leu278Ile
XM_011510020.2:c.832C>A XP_011508322.1:p.Leu278Ile
NM_030787.4:c.823C>A MANE Select NP_110414.1:p.Leu275Ile
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