Canonical Allele Identifier: CA382967868
Gene: C1QTNF5 HGNC NCBI
MFRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1369497
ClinVar RCV Id: RCV001870664
dbSNP Id: rs1447464669

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119339378C>T , CM000673.2:g.119339378C>T GRCh38
NC_000011.9:g.119210088C>T , CM000673.1:g.119210088C>T GRCh37
NC_000011.8:g.118715298C>T NCBI36
NG_012235.1:g.12296G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000528368.3:c.685G>A (C1QTNF5) MANE Select ENSP00000431140.1:p.Gly229Arg
ENST00000619721.6:c.*1581G>A (MFRP) MANE Select ENSP00000481824.1:n.*1581G>A
ENST00000525657.2:n.575G>A (C1QTNF5)
ENST00000528368.2:c.685G>A (C1QTNF5) ENSP00000431140.1:p.Gly229Arg
ENST00000530681.2:c.685G>A (C1QTNF5) ENSP00000456533.2:p.Gly229Arg
ENST00000619721.5:c.*1581G>A (MFRP) ENSP00000481824.1:n.*1581G>A
NM_001278431.1:c.685G>A (C1QTNF5) NP_001265360.1:p.Gly229Arg
NM_015645.4:c.685G>A (C1QTNF5) NP_056460.1:p.Gly229Arg
NM_031433.3:c.*1581G>A (MFRP) NP_113621.1:n.*1581G>A
NM_001278431.2:c.685G>A (C1QTNF5) MANE Select NP_001265360.1:p.Gly229Arg
NM_031433.4:c.*1581G>A (MFRP) MANE Select NP_113621.1:n.*1581G>A
NM_015645.5:c.685G>A (C1QTNF5) NP_056460.1:p.Gly229Arg