Canonical Allele Identifier: CA1630855383
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119345569G= , CM000673.2:g.119345569G= GRCh38
NC_000011.9:g.119216279G= , CM000673.1:g.119216279G= GRCh37
NC_000011.8:g.118721489G= NCBI36
NG_012235.1:g.6105C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.492C= (MFRP) MANE Select ENSP00000481824.1:p.Tyr164=
ENST00000360167.4:c.492C= (MFRP) ENSP00000353291.4:p.Tyr164=
ENST00000529147.2:n.455C= (MFRP)
ENST00000619721.5:c.492C= (MFRP) ENSP00000481824.1:p.Tyr164=
ENST00000634542.1:c.*83C= (MFRP) ENSP00000488979.1:n.*83C=
NM_015645.4:c.-2145C= (C1QTNF5) NP_056460.1:n.-2145C=
NM_031433.3:c.492C= (MFRP) NP_113621.1:p.Tyr164=
NM_031433.4:c.492C= (MFRP) MANE Select NP_113621.1:p.Tyr164=
NM_015645.5:c.-2145C= (C1QTNF5) NP_056460.1:n.-2145C=