Canonical Allele Identifier: CA382967787
Gene: C1QTNF5 HGNC NCBI
MFRP HGNC NCBI

Linked Data

gnomAD v4: 11-119339360-C-T
MyVariant Identifiers: chr11:g.119210070C>T (hg19) chr11:g.119339360C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119339360C>T , CM000673.2:g.119339360C>T GRCh38
NC_000011.9:g.119210070C>T , CM000673.1:g.119210070C>T GRCh37
NC_000011.8:g.118715280C>T NCBI36
NG_012235.1:g.12314G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000528368.3:c.703G>A (C1QTNF5) MANE Select ENSP00000431140.1:p.Asp235Asn
ENST00000619721.6:c.*1599G>A (MFRP) MANE Select ENSP00000481824.1:n.*1599G>A
ENST00000528368.2:c.703G>A (C1QTNF5) ENSP00000431140.1:p.Asp235Asn
ENST00000530681.2:c.703G>A (C1QTNF5) ENSP00000456533.2:p.Asp235Asn
ENST00000619721.5:c.*1599G>A (MFRP) ENSP00000481824.1:n.*1599G>A
NM_001278431.1:c.703G>A (C1QTNF5) NP_001265360.1:p.Asp235Asn
NM_015645.4:c.703G>A (C1QTNF5) NP_056460.1:p.Asp235Asn
NM_031433.3:c.*1599G>A (MFRP) NP_113621.1:n.*1599G>A
NM_001278431.2:c.703G>A (C1QTNF5) MANE Select NP_001265360.1:p.Asp235Asn
NM_031433.4:c.*1599G>A (MFRP) MANE Select NP_113621.1:n.*1599G>A
NM_015645.5:c.703G>A (C1QTNF5) NP_056460.1:p.Asp235Asn
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