Canonical Allele Identifier: CA2616403988

Gene: MFRP C1QTNF5

Linked Data

• gnomAD v4: 11-119341450-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119341450T>G , CM000673.2:g.119341450T>G	GRCh38
NC_000011.9:g.119212160T>G , CM000673.1:g.119212160T>G	GRCh37
NC_000011.8:g.118717370T>G	NCBI36
NG_012235.1:g.10224A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.*98A>C (MFRP) MANE Select	ENSP00000481824.1:n.*98A>C
ENST00000360167.4:c.*98A>C (MFRP)	ENSP00000353291.4:n.*98A>C
ENST00000619721.5:c.*98A>C (MFRP)	ENSP00000481824.1:n.*98A>C
NM_015645.4:c.-799A>C (C1QTNF5)	NP_056460.1:n.-799A>C
NM_031433.3:c.*98A>C (MFRP)	NP_113621.1:n.*98A>C
NM_031433.4:c.*98A>C (MFRP) MANE Select	NP_113621.1:n.*98A>C
NM_015645.5:c.-799A>C (C1QTNF5)	NP_056460.1:n.-799A>C