Canonical Allele Identifier: CA382967751
Gene: C1QTNF5 HGNC NCBI
MFRP HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.119210065C>G (hg19) chr11:g.119339355C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119339355C>G , CM000673.2:g.119339355C>G GRCh38
NC_000011.9:g.119210065C>G , CM000673.1:g.119210065C>G GRCh37
NC_000011.8:g.118715275C>G NCBI36
NG_012235.1:g.12319G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000528368.3:c.708G>C (C1QTNF5) MANE Select ENSP00000431140.1:p.Trp236Cys
ENST00000619721.6:c.*1604G>C (MFRP) MANE Select ENSP00000481824.1:n.*1604G>C
ENST00000528368.2:c.708G>C (C1QTNF5) ENSP00000431140.1:p.Trp236Cys
ENST00000530681.2:c.708G>C (C1QTNF5) ENSP00000456533.2:p.Trp236Cys
ENST00000619721.5:c.*1604G>C (MFRP) ENSP00000481824.1:n.*1604G>C
NM_001278431.1:c.708G>C (C1QTNF5) NP_001265360.1:p.Trp236Cys
NM_015645.4:c.708G>C (C1QTNF5) NP_056460.1:p.Trp236Cys
NM_031433.3:c.*1604G>C (MFRP) NP_113621.1:n.*1604G>C
NM_001278431.2:c.708G>C (C1QTNF5) MANE Select NP_001265360.1:p.Trp236Cys
NM_031433.4:c.*1604G>C (MFRP) MANE Select NP_113621.1:n.*1604G>C
NM_015645.5:c.708G>C (C1QTNF5) NP_056460.1:p.Trp236Cys
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