Canonical Allele Identifier: CA6320543

Gene: MFRP C1QTNF5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119345609G>T , CM000673.2:g.119345609G>T	GRCh38
NC_000011.9:g.119216319G>T , CM000673.1:g.119216319G>T	GRCh37
NC_000011.8:g.118721529G>T	NCBI36
NG_012235.1:g.6065C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_031433.4:c.452C>A (MFRP) MANE Select	NP_113621.1:p.Pro151Gln
ENST00000619721.6:c.452C>A (MFRP) MANE Select	ENSP00000481824.1:p.Pro151Gln
NM_015645.4:c.-2185C>A (C1QTNF5)	NP_056460.1:n.-2185C>A
NM_015645.5:c.-2185C>A (C1QTNF5)	NP_056460.1:n.-2185C>A
NM_031433.3:c.452C>A (MFRP)	NP_113621.1:p.Pro151Gln
ENST00000360167.4:c.452C>A (MFRP)	ENSP00000353291.4:p.Pro151Gln
ENST00000529147.2:n.415C>A (MFRP)
ENST00000619721.5:c.452C>A (MFRP)	ENSP00000481824.1:p.Pro151Gln
ENST00000634542.1:c.*43C>A (MFRP)	ENSP00000488979.1:n.*43C>A