Canonical Allele Identifier: CA344005616
Gene: CFHR5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196965212T>A (hg19) chr1:g.196996082T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996082T>A , CM000663.2:g.196996082T>A GRCh38
NC_000001.10:g.196965212T>A , CM000663.1:g.196965212T>A GRCh37
NC_000001.9:g.195231835T>A NCBI36
NG_016365.1:g.23546T>A , LRG_227:g.23546T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.596T>A ENSP00000514393.1:p.Val199Asp
ENST00000699467.1:n.920T>A
ENST00000699468.1:c.-24-32T>A ENSP00000514394.1:n.-24-32T>A
ENST00000256785.5:c.851T>A MANE Select ENSP00000256785.4:p.Val284Asp
ENST00000256785.4:c.851T>A ENSP00000256785.4:p.Val284Asp
NM_030787.3:c.851T>A , LRG_227t1:c.851T>A NP_110414.1:p.Val284Asp
XM_011510020.1:c.860T>A XP_011508322.1:p.Val287Asp
XM_011510020.2:c.860T>A XP_011508322.1:p.Val287Asp
NM_030787.4:c.851T>A MANE Select NP_110414.1:p.Val284Asp
Search 100 bp 5'
Search 100 bp 3'