Canonical Allele Identifier: CA2003917588
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341642C= , CM000673.2:g.119341642C= GRCh38
NC_000011.9:g.119212352C= , CM000673.1:g.119212352C= GRCh37
NC_000011.8:g.118717562C= NCBI36
NG_012235.1:g.10032G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.1646G= (MFRP) MANE Select ENSP00000481824.1:p.Cys549=
ENST00000360167.4:c.1292G= (MFRP) ENSP00000353291.4:p.Cys431=
ENST00000449574.7:c.517G= (MFRP)
ENST00000619721.5:c.1646G= (MFRP) ENSP00000481824.1:p.Cys549=
NM_015645.4:c.-991G= (C1QTNF5) NP_056460.1:n.-991G=
NM_031433.3:c.1646G= (MFRP) NP_113621.1:p.Cys549=
NM_031433.4:c.1646G= (MFRP) MANE Select NP_113621.1:p.Cys549=
NM_015645.5:c.-991G= (C1QTNF5) NP_056460.1:n.-991G=