Canonical Allele Identifier: CA2616403912
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

gnomAD v4: 11-119341439-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341439A>C , CM000673.2:g.119341439A>C GRCh38
NC_000011.9:g.119212149A>C , CM000673.1:g.119212149A>C GRCh37
NC_000011.8:g.118717359A>C NCBI36
NG_012235.1:g.10235T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.*109T>G (MFRP) MANE Select ENSP00000481824.1:n.*109T>G
ENST00000360167.4:c.*109T>G (MFRP) ENSP00000353291.4:n.*109T>G
ENST00000619721.5:c.*109T>G (MFRP) ENSP00000481824.1:n.*109T>G
NM_015645.4:c.-788T>G (C1QTNF5) NP_056460.1:n.-788T>G
NM_031433.3:c.*109T>G (MFRP) NP_113621.1:n.*109T>G
NM_031433.4:c.*109T>G (MFRP) MANE Select NP_113621.1:n.*109T>G
NM_015645.5:c.-788T>G (C1QTNF5) NP_056460.1:n.-788T>G
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