Canonical Allele Identifier: CA2003922150
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119344339G= , CM000673.2:g.119344339G= GRCh38
NC_000011.9:g.119215049G= , CM000673.1:g.119215049G= GRCh37
NC_000011.8:g.118720259G= NCBI36
NG_012235.1:g.7335C=

Transcript Alleles

HGVS Amino-acid change
ENST00000619721.6:c.951C= (MFRP) MANE Select ENSP00000481824.1:p.Tyr317=
ENST00000360167.4:c.898+293C= (MFRP) ENSP00000353291.4:n.898+293C=
ENST00000619721.5:c.951C= (MFRP) ENSP00000481824.1:p.Tyr317=
NM_015645.4:c.-1686C= (C1QTNF5) NP_056460.1:n.-1686C=
NM_031433.3:c.951C= (MFRP) NP_113621.1:p.Tyr317=
NM_031433.4:c.951C= (MFRP) MANE Select NP_113621.1:p.Tyr317=
NM_015645.5:c.-1686C= (C1QTNF5) NP_056460.1:n.-1686C=