Canonical Allele Identifier: CA13563801
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI
gnomAD v2:
11:119214798 T / C
gnomAD v3:
11:119344088 T / C
gnomAD v4:
chr11-119344088-T-C
Joint Max Group AF 0.74256654 (AMR)
Genomes Max Group AF 0.67138292 (AMR)
Exomes Max Group AF 0.7678244 (AMR)
ClinVar RCV:
RCV001617141
ClinVar Variation:
1231094
dbSNP:
948414
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119344088T>C , CM000673.2:g.119344088T>C GRCh38
NC_000011.9:g.119214798T>C , CM000673.1:g.119214798T>C GRCh37
NC_000011.8:g.118720008T>C NCBI36
NG_012235.1:g.7586A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.976-124A>G (MFRP) MANE Select ENSP00000481824.1:n.976-124A>G
ENST00000360167.4:c.898+544A>G (MFRP) ENSP00000353291.4:n.898+544A>G
ENST00000619721.5:c.976-124A>G (MFRP) ENSP00000481824.1:n.976-124A>G
NM_015645.4:c.-1661-124A>G (C1QTNF5) NP_056460.1:n.-1661-124A>G
NM_031433.3:c.976-124A>G (MFRP) NP_113621.1:n.976-124A>G
NM_031433.4:c.976-124A>G (MFRP) MANE Select NP_113621.1:n.976-124A>G
NM_015645.5:c.-1661-124A>G (C1QTNF5) NP_056460.1:n.-1661-124A>G
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