Canonical Allele Identifier: CA2003917514
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341615G= , CM000673.2:g.119341615G= GRCh38
NC_000011.9:g.119212325G= , CM000673.1:g.119212325G= GRCh37
NC_000011.8:g.118717535G= NCBI36
NG_012235.1:g.10059C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.1673C= (MFRP) MANE Select ENSP00000481824.1:p.Thr558=
ENST00000360167.4:c.1319C= (MFRP) ENSP00000353291.4:p.Thr440=
ENST00000449574.7:c.544C= (MFRP)
ENST00000619721.5:c.1673C= (MFRP) ENSP00000481824.1:p.Thr558=
NM_015645.4:c.-964C= (C1QTNF5) NP_056460.1:n.-964C=
NM_031433.3:c.1673C= (MFRP) NP_113621.1:p.Thr558=
NM_031433.4:c.1673C= (MFRP) MANE Select NP_113621.1:p.Thr558=
NM_015645.5:c.-964C= (C1QTNF5) NP_056460.1:n.-964C=