Canonical Allele Identifier: CA2616403917

Gene: MFRP C1QTNF5

Linked Data

• gnomAD v4: 11-119341440-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119341440G>A , CM000673.2:g.119341440G>A	GRCh38
NC_000011.9:g.119212150G>A , CM000673.1:g.119212150G>A	GRCh37
NC_000011.8:g.118717360G>A	NCBI36
NG_012235.1:g.10234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.*108C>T (MFRP) MANE Select	ENSP00000481824.1:n.*108C>T
ENST00000360167.4:c.*108C>T (MFRP)	ENSP00000353291.4:n.*108C>T
ENST00000619721.5:c.*108C>T (MFRP)	ENSP00000481824.1:n.*108C>T
NM_015645.4:c.-789C>T (C1QTNF5)	NP_056460.1:n.-789C>T
NM_031433.3:c.*108C>T (MFRP)	NP_113621.1:n.*108C>T
NM_031433.4:c.*108C>T (MFRP) MANE Select	NP_113621.1:n.*108C>T
NM_015645.5:c.-789C>T (C1QTNF5)	NP_056460.1:n.-789C>T