Canonical Allele Identifier: CA382971732
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341740G>T , CM000673.2:g.119341740G>T GRCh38
NC_000011.9:g.119212450G>T , CM000673.1:g.119212450G>T GRCh37
NC_000011.8:g.118717660G>T NCBI36
NG_012235.1:g.9934C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.1548C>A (MFRP) MANE Select ENSP00000481824.1:p.Phe516Leu
ENST00000360167.4:c.1194C>A (MFRP) ENSP00000353291.4:p.Phe398Leu
ENST00000449574.7:c.419C>A (MFRP)
ENST00000619721.5:c.1548C>A (MFRP) ENSP00000481824.1:p.Phe516Leu
NM_015645.4:c.-1089C>A (C1QTNF5) NP_056460.1:n.-1089C>A
NM_031433.3:c.1548C>A (MFRP) NP_113621.1:p.Phe516Leu
NM_031433.4:c.1548C>A (MFRP) MANE Select NP_113621.1:p.Phe516Leu
NM_015645.5:c.-1089C>A (C1QTNF5) NP_056460.1:n.-1089C>A