Canonical Allele Identifier: CA2003913160
Gene: C1QTNF5 HGNC NCBI
MFRP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119339391G= , CM000673.2:g.119339391G= GRCh38
NC_000011.9:g.119210101G= , CM000673.1:g.119210101G= GRCh37
NC_000011.8:g.118715311G= NCBI36
NG_012235.1:g.12283C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000528368.3:c.672C= (C1QTNF5) MANE Select ENSP00000431140.1:p.Asp224=
ENST00000619721.6:c.*1568C= (MFRP) MANE Select ENSP00000481824.1:n.*1568C=
ENST00000525657.2:n.562C= (C1QTNF5)
ENST00000528368.2:c.672C= (C1QTNF5) ENSP00000431140.1:p.Asp224=
ENST00000530681.2:c.672C= (C1QTNF5) ENSP00000456533.2:p.Asp224=
ENST00000619721.5:c.*1568C= (MFRP) ENSP00000481824.1:n.*1568C=
NM_001278431.1:c.672C= (C1QTNF5) NP_001265360.1:p.Asp224=
NM_015645.4:c.672C= (C1QTNF5) NP_056460.1:p.Asp224=
NM_031433.3:c.*1568C= (MFRP) NP_113621.1:n.*1568C=
NM_001278431.2:c.672C= (C1QTNF5) MANE Select NP_001265360.1:p.Asp224=
NM_031433.4:c.*1568C= (MFRP) MANE Select NP_113621.1:n.*1568C=
NM_015645.5:c.672C= (C1QTNF5) NP_056460.1:p.Asp224=