Canonical Allele Identifier: CA2003924540
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119345550C= , CM000673.2:g.119345550C= GRCh38
NC_000011.9:g.119216260C= , CM000673.1:g.119216260C= GRCh37
NC_000011.8:g.118721470C= NCBI36
NG_012235.1:g.6124G=

Transcript Alleles

HGVS Amino-acid change
ENST00000619721.6:c.511G= (MFRP) MANE Select ENSP00000481824.1:p.Val171=
ENST00000360167.4:c.511G= (MFRP) ENSP00000353291.4:p.Val171=
ENST00000529147.2:n.474G= (MFRP)
ENST00000619721.5:c.511G= (MFRP) ENSP00000481824.1:p.Val171=
ENST00000634542.1:c.*102G= (MFRP) ENSP00000488979.1:n.*102G=
NM_015645.4:c.-2126G= (C1QTNF5) NP_056460.1:n.-2126G=
NM_031433.3:c.511G= (MFRP) NP_113621.1:p.Val171=
NM_031433.4:c.511G= (MFRP) MANE Select NP_113621.1:p.Val171=
NM_015645.5:c.-2126G= (C1QTNF5) NP_056460.1:n.-2126G=