Canonical Allele Identifier: CA477155442
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.119212453A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341743A>G , CM000673.2:g.119341743A>G GRCh38
NC_000011.9:g.119212453A>G , CM000673.1:g.119212453A>G GRCh37
NC_000011.8:g.118717663A>G NCBI36
NG_012235.1:g.9931T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.1545T>C (MFRP) MANE Select ENSP00000481824.1:p.His515=
ENST00000360167.4:c.1191T>C (MFRP) ENSP00000353291.4:p.His397=
ENST00000449574.7:c.416T>C (MFRP)
ENST00000619721.5:c.1545T>C (MFRP) ENSP00000481824.1:p.His515=
NM_015645.4:c.-1092T>C (C1QTNF5) NP_056460.1:n.-1092T>C
NM_031433.3:c.1545T>C (MFRP) NP_113621.1:p.His515=
NM_031433.4:c.1545T>C (MFRP) MANE Select NP_113621.1:p.His515=
NM_015645.5:c.-1092T>C (C1QTNF5) NP_056460.1:n.-1092T>C
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