Canonical Allele Identifier: CA6320054
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1035134
ClinVar RCV Id: RCV001337960
dbSNP Id: rs750570918
ExAC: 11:119212382 C / T
gnomAD v2: 11-119212382-C-T
gnomAD v3: 11-119341672-C-T
gnomAD v4: 11-119341672-C-T
MyVariant Identifiers: chr11:g.119212382C>T (hg19) chr11:g.119341672C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341672C>T , CM000673.2:g.119341672C>T GRCh38
NC_000011.9:g.119212382C>T , CM000673.1:g.119212382C>T GRCh37
NC_000011.8:g.118717592C>T NCBI36
NG_012235.1:g.10002G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.1616G>A (MFRP) MANE Select ENSP00000481824.1:p.Arg539His
ENST00000360167.4:c.1262G>A (MFRP) ENSP00000353291.4:p.Arg421His
ENST00000449574.7:c.487G>A (MFRP)
ENST00000619721.5:c.1616G>A (MFRP) ENSP00000481824.1:p.Arg539His
NM_015645.4:c.-1021G>A (C1QTNF5) NP_056460.1:n.-1021G>A
NM_031433.3:c.1616G>A (MFRP) NP_113621.1:p.Arg539His
NM_031433.4:c.1616G>A (MFRP) MANE Select NP_113621.1:p.Arg539His
NM_015645.5:c.-1021G>A (C1QTNF5) NP_056460.1:n.-1021G>A
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