Canonical Allele Identifier: CA6320322
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 302960
ClinVar RCV Id: RCV000408196 RCV001107645 RCV001059723 RCV003258749
dbSNP Id: rs755974208
ExAC: 11:119215059 G / T
gnomAD v2: 11-119215059-G-T
gnomAD v3: 11-119344349-G-T
gnomAD v4: 11-119344349-G-T
MyVariant Identifiers: chr11:g.119215059G>T (hg19) chr11:g.119344349G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119344349G>T , CM000673.2:g.119344349G>T GRCh38
NC_000011.9:g.119215059G>T , CM000673.1:g.119215059G>T GRCh37
NC_000011.8:g.118720269G>T NCBI36
NG_012235.1:g.7325C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.941C>A (MFRP) MANE Select ENSP00000481824.1:p.Thr314Asn
ENST00000360167.4:c.898+283C>A (MFRP) ENSP00000353291.4:n.898+283C>A
ENST00000619721.5:c.941C>A (MFRP) ENSP00000481824.1:p.Thr314Asn
NM_015645.4:c.-1696C>A (C1QTNF5) NP_056460.1:n.-1696C>A
NM_031433.3:c.941C>A (MFRP) NP_113621.1:p.Thr314Asn
NM_031433.4:c.941C>A (MFRP) MANE Select NP_113621.1:p.Thr314Asn
NM_015645.5:c.-1696C>A (C1QTNF5) NP_056460.1:n.-1696C>A
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