Canonical Allele Identifier: CA382967722
Gene: C1QTNF5 HGNC NCBI
MFRP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119339351T>A , CM000673.2:g.119339351T>A GRCh38
NC_000011.9:g.119210061T>A , CM000673.1:g.119210061T>A GRCh37
NC_000011.8:g.118715271T>A NCBI36
NG_012235.1:g.12323A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000528368.3:c.712A>T (C1QTNF5) MANE Select ENSP00000431140.1:p.Ser238Cys
ENST00000619721.6:c.*1608A>T (MFRP) MANE Select ENSP00000481824.1:n.*1608A>T
ENST00000528368.2:c.712A>T (C1QTNF5) ENSP00000431140.1:p.Ser238Cys
ENST00000530681.2:c.712A>T (C1QTNF5) ENSP00000456533.2:p.Ser238Cys
ENST00000619721.5:c.*1608A>T (MFRP) ENSP00000481824.1:n.*1608A>T
NM_001278431.1:c.712A>T (C1QTNF5) NP_001265360.1:p.Ser238Cys
NM_015645.4:c.712A>T (C1QTNF5) NP_056460.1:p.Ser238Cys
NM_031433.3:c.*1608A>T (MFRP) NP_113621.1:n.*1608A>T
NM_001278431.2:c.712A>T (C1QTNF5) MANE Select NP_001265360.1:p.Ser238Cys
NM_031433.4:c.*1608A>T (MFRP) MANE Select NP_113621.1:n.*1608A>T
NM_015645.5:c.712A>T (C1QTNF5) NP_056460.1:p.Ser238Cys