Canonical Allele Identifier: CA6320668

Gene: MFRP C1QTNF5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119346127G>A , CM000673.2:g.119346127G>A	GRCh38
NC_000011.9:g.119216837G>A , CM000673.1:g.119216837G>A	GRCh37
NC_000011.8:g.118722047G>A	NCBI36
NG_012235.1:g.5547C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_031433.4:c.190C>T (MFRP) MANE Select	NP_113621.1:p.Arg64Cys
ENST00000619721.6:c.190C>T (MFRP) MANE Select	ENSP00000481824.1:p.Arg64Cys
NM_015645.4:c.-2447C>T (C1QTNF5)	NP_056460.1:n.-2447C>T
NM_015645.5:c.-2447C>T (C1QTNF5)	NP_056460.1:n.-2447C>T
NM_031433.3:c.190C>T (MFRP)	NP_113621.1:p.Arg64Cys
ENST00000360167.4:c.190C>T (MFRP)	ENSP00000353291.4:p.Arg64Cys
ENST00000526059.1:n.348C>T (MFRP)
ENST00000529147.2:n.153C>T (MFRP)
ENST00000619721.5:c.190C>T (MFRP)	ENSP00000481824.1:p.Arg64Cys
ENST00000634542.1:c.87C>T (MFRP)	ENSP00000488979.1:p.Ala29=