Canonical Allele Identifier: CA6320059
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2607031
ClinVar RCV Id: RCV003355062
dbSNP Id: rs777456147
ExAC: 11:119212419 G / A
gnomAD v2: 11-119212419-G-A
gnomAD v3: 11-119341709-G-A
gnomAD v4: 11-119341709-G-A
MyVariant Identifiers: chr11:g.119212419G>A (hg19) chr11:g.119341709G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341709G>A , CM000673.2:g.119341709G>A GRCh38
NC_000011.9:g.119212419G>A , CM000673.1:g.119212419G>A GRCh37
NC_000011.8:g.118717629G>A NCBI36
NG_012235.1:g.9965C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.1579C>T (MFRP) MANE Select ENSP00000481824.1:p.Arg527Cys
ENST00000360167.4:c.1225C>T (MFRP) ENSP00000353291.4:p.Arg409Cys
ENST00000449574.7:c.450C>T (MFRP)
ENST00000619721.5:c.1579C>T (MFRP) ENSP00000481824.1:p.Arg527Cys
NM_015645.4:c.-1058C>T (C1QTNF5) NP_056460.1:n.-1058C>T
NM_031433.3:c.1579C>T (MFRP) NP_113621.1:p.Arg527Cys
NM_031433.4:c.1579C>T (MFRP) MANE Select NP_113621.1:p.Arg527Cys
NM_015645.5:c.-1058C>T (C1QTNF5) NP_056460.1:n.-1058C>T
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