Canonical Allele Identifier: CA6320293
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 302956
ClinVar RCV Id: RCV000349203 RCV001106995 RCV001106994
dbSNP Id: rs200069261
ExAC: 11:119214688 T / G
gnomAD v2: 11-119214688-T-G
gnomAD v3: 11-119343978-T-G
gnomAD v4: 11-119343978-T-G
MyVariant Identifiers: chr11:g.119214688T>G (hg19) chr11:g.119343978T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119343978T>G , CM000673.2:g.119343978T>G GRCh38
NC_000011.9:g.119214688T>G , CM000673.1:g.119214688T>G GRCh37
NC_000011.8:g.118719898T>G NCBI36
NG_012235.1:g.7696A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.976-14A>C (MFRP) MANE Select ENSP00000481824.1:n.976-14A>C
ENST00000360167.4:c.898+654A>C (MFRP) ENSP00000353291.4:n.898+654A>C
ENST00000619721.5:c.976-14A>C (MFRP) ENSP00000481824.1:n.976-14A>C
NM_015645.4:c.-1661-14A>C (C1QTNF5) NP_056460.1:n.-1661-14A>C
NM_031433.3:c.976-14A>C (MFRP) NP_113621.1:n.976-14A>C
NM_031433.4:c.976-14A>C (MFRP) MANE Select NP_113621.1:n.976-14A>C
NM_015645.5:c.-1661-14A>C (C1QTNF5) NP_056460.1:n.-1661-14A>C
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