Canonical Allele Identifier: CA1307892
Gene: CFHR5 HGNC NCBI

Linked Data

ClinVar Variation Id: 377177
dbSNP Id: rs139017763

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.196996063G>A , CM000663.2:g.196996063G>A GRCh38
NC_000001.10:g.196965193G>A , CM000663.1:g.196965193G>A GRCh37
NC_000001.9:g.195231816G>A NCBI36
NG_016365.1:g.23527G>A , LRG_227:g.23527G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699466.1:c.577G>A ENSP00000514393.1:p.Gly193Ser
ENST00000699467.1:n.901G>A
ENST00000699468.1:c.-24-51G>A ENSP00000514394.1:n.-24-51G>A
ENST00000256785.5:c.832G>A MANE Select ENSP00000256785.4:p.Gly278Ser
ENST00000256785.4:c.832G>A ENSP00000256785.4:p.Gly278Ser
NM_030787.3:c.832G>A , LRG_227t1:c.832G>A NP_110414.1:p.Gly278Ser
XM_011510020.1:c.841G>A XP_011508322.1:p.Gly281Ser
XM_011510020.2:c.841G>A XP_011508322.1:p.Gly281Ser
NM_030787.4:c.832G>A MANE Select NP_110414.1:p.Gly278Ser