Canonical Allele Identifier: CA422802829
Gene: CFHR5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.196965174C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.558C>T ENSP00000514393.1:p.Tyr186=
ENST00000699467.1:n.882C>T
ENST00000699468.1:c.-24-70C>T ENSP00000514394.1:n.-24-70C>T
ENST00000256785.5:c.813C>T MANE Select ENSP00000256785.4:p.Tyr271=
ENST00000256785.4:c.813C>T ENSP00000256785.4:p.Tyr271=
NM_030787.3:c.813C>T , LRG_227t1:c.813C>T NP_110414.1:p.Tyr271=
XM_011510020.1:c.822C>T XP_011508322.1:p.Tyr274=
XM_011510020.2:c.822C>T XP_011508322.1:p.Tyr274=
NM_030787.4:c.813C>T MANE Select NP_110414.1:p.Tyr271=