Canonical Allele Identifier: CA229675248

Gene: MFRP C1QTNF5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119341995G>A , CM000673.2:g.119341995G>A	GRCh38
NC_000011.9:g.119212705G>A , CM000673.1:g.119212705G>A	GRCh37
NC_000011.8:g.118717915G>A	NCBI36
NG_012235.1:g.9679C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_031433.4:c.1388-11C>T (MFRP) MANE Select	NP_113621.1:n.1388-11C>T
ENST00000619721.6:c.1388-11C>T (MFRP) MANE Select	ENSP00000481824.1:n.1388-11C>T
NM_015645.4:c.-1249-11C>T (C1QTNF5)	NP_056460.1:n.-1249-11C>T
NM_015645.5:c.-1249-11C>T (C1QTNF5)	NP_056460.1:n.-1249-11C>T
NM_031433.3:c.1388-11C>T (MFRP)	NP_113621.1:n.1388-11C>T
ENST00000360167.4:c.1162-223C>T (MFRP)	ENSP00000353291.4:n.1162-223C>T
ENST00000449574.7:c.259-11C>T (MFRP)
ENST00000619721.5:c.1388-11C>T (MFRP)	ENSP00000481824.1:n.1388-11C>T