Canonical Allele Identifier: CA382971570
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.119212401T>A (hg19) chr11:g.119341691T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341691T>A , CM000673.2:g.119341691T>A GRCh38
NC_000011.9:g.119212401T>A , CM000673.1:g.119212401T>A GRCh37
NC_000011.8:g.118717611T>A NCBI36
NG_012235.1:g.9983A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.1597A>T (MFRP) MANE Select ENSP00000481824.1:p.Ser533Cys
ENST00000360167.4:c.1243A>T (MFRP) ENSP00000353291.4:p.Ser415Cys
ENST00000449574.7:c.468A>T (MFRP)
ENST00000619721.5:c.1597A>T (MFRP) ENSP00000481824.1:p.Ser533Cys
NM_015645.4:c.-1040A>T (C1QTNF5) NP_056460.1:n.-1040A>T
NM_031433.3:c.1597A>T (MFRP) NP_113621.1:p.Ser533Cys
NM_031433.4:c.1597A>T (MFRP) MANE Select NP_113621.1:p.Ser533Cys
NM_015645.5:c.-1040A>T (C1QTNF5) NP_056460.1:n.-1040A>T
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