Canonical Allele Identifier: CA2616403919

Gene: MFRP C1QTNF5

Linked Data

• gnomAD v4: 11-119341442-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119341442A>G , CM000673.2:g.119341442A>G	GRCh38
NC_000011.9:g.119212152A>G , CM000673.1:g.119212152A>G	GRCh37
NC_000011.8:g.118717362A>G	NCBI36
NG_012235.1:g.10232T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.*106T>C (MFRP) MANE Select	ENSP00000481824.1:n.*106T>C
ENST00000360167.4:c.*106T>C (MFRP)	ENSP00000353291.4:n.*106T>C
ENST00000619721.5:c.*106T>C (MFRP)	ENSP00000481824.1:n.*106T>C
NM_015645.4:c.-791T>C (C1QTNF5)	NP_056460.1:n.-791T>C
NM_031433.3:c.*106T>C (MFRP)	NP_113621.1:n.*106T>C
NM_031433.4:c.*106T>C (MFRP) MANE Select	NP_113621.1:n.*106T>C
NM_015645.5:c.-791T>C (C1QTNF5)	NP_056460.1:n.-791T>C