Canonical Allele Identifier: CA6320320
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

dbSNP Id: rs151160924
ExAC: 11:119215050 T / G
gnomAD v2: 11-119215050-T-G
gnomAD v3: 11-119344340-T-G
gnomAD v4: 11-119344340-T-G
MyVariant Identifiers: chr11:g.119215050T>G (hg19) chr11:g.119344340T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119344340T>G , CM000673.2:g.119344340T>G GRCh38
NC_000011.9:g.119215050T>G , CM000673.1:g.119215050T>G GRCh37
NC_000011.8:g.118720260T>G NCBI36
NG_012235.1:g.7334A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000619721.6:c.950A>C (MFRP) MANE Select ENSP00000481824.1:p.Tyr317Ser
ENST00000360167.4:c.898+292A>C (MFRP) ENSP00000353291.4:n.898+292A>C
ENST00000619721.5:c.950A>C (MFRP) ENSP00000481824.1:p.Tyr317Ser
NM_015645.4:c.-1687A>C (C1QTNF5) NP_056460.1:n.-1687A>C
NM_031433.3:c.950A>C (MFRP) NP_113621.1:p.Tyr317Ser
NM_031433.4:c.950A>C (MFRP) MANE Select NP_113621.1:p.Tyr317Ser
NM_015645.5:c.-1687A>C (C1QTNF5) NP_056460.1:n.-1687A>C
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