Canonical Allele Identifier: CA382971311
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

gnomAD v4: 11-119341568-C-G
MyVariant Identifiers: chr11:g.119212278C>G (hg19) chr11:g.119341568C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341568C>G , CM000673.2:g.119341568C>G GRCh38
NC_000011.9:g.119212278C>G , CM000673.1:g.119212278C>G GRCh37
NC_000011.8:g.118717488C>G NCBI36
NG_012235.1:g.10106G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.1720G>C (MFRP) MANE Select ENSP00000481824.1:p.Glu574Gln
ENST00000360167.4:c.1366G>C (MFRP) ENSP00000353291.4:p.Glu456Gln
ENST00000619721.5:c.1720G>C (MFRP) ENSP00000481824.1:p.Glu574Gln
NM_015645.4:c.-917G>C (C1QTNF5) NP_056460.1:n.-917G>C
NM_031433.3:c.1720G>C (MFRP) NP_113621.1:p.Glu574Gln
NM_031433.4:c.1720G>C (MFRP) MANE Select NP_113621.1:p.Glu574Gln
NM_015645.5:c.-917G>C (C1QTNF5) NP_056460.1:n.-917G>C
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