Canonical Allele Identifier: CA6320449

Gene: MFRP C1QTNF5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119344977C>T , CM000673.2:g.119344977C>T	GRCh38
NC_000011.9:g.119215687C>T , CM000673.1:g.119215687C>T	GRCh37
NC_000011.8:g.118720897C>T	NCBI36
NG_012235.1:g.6697G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_031433.4:c.669G>A (MFRP) MANE Select	NP_113621.1:p.Thr223=
ENST00000619721.6:c.669G>A (MFRP) MANE Select	ENSP00000481824.1:p.Thr223=
NM_015645.4:c.-1968G>A (C1QTNF5)	NP_056460.1:n.-1968G>A
NM_015645.5:c.-1968G>A (C1QTNF5)	NP_056460.1:n.-1968G>A
NM_031433.3:c.669G>A (MFRP)	NP_113621.1:p.Thr223=
ENST00000360167.4:c.669G>A (MFRP)	ENSP00000353291.4:p.Thr223=
ENST00000529147.2:n.632G>A (MFRP)
ENST00000619721.5:c.669G>A (MFRP)	ENSP00000481824.1:p.Thr223=
ENST00000634542.1:c.*260G>A (MFRP)	ENSP00000488979.1:n.*260G>A