Canonical Allele Identifier: CA382976029
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

gnomAD v4: 11-119344343-C-T
MyVariant Identifiers: chr11:g.119215053C>T (hg19) chr11:g.119344343C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119344343C>T , CM000673.2:g.119344343C>T GRCh38
NC_000011.9:g.119215053C>T , CM000673.1:g.119215053C>T GRCh37
NC_000011.8:g.118720263C>T NCBI36
NG_012235.1:g.7331G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000619721.6:c.947G>A (MFRP) MANE Select ENSP00000481824.1:p.Ser316Asn
ENST00000360167.4:c.898+289G>A (MFRP) ENSP00000353291.4:n.898+289G>A
ENST00000619721.5:c.947G>A (MFRP) ENSP00000481824.1:p.Ser316Asn
NM_015645.4:c.-1690G>A (C1QTNF5) NP_056460.1:n.-1690G>A
NM_031433.3:c.947G>A (MFRP) NP_113621.1:p.Ser316Asn
NM_031433.4:c.947G>A (MFRP) MANE Select NP_113621.1:p.Ser316Asn
NM_015645.5:c.-1690G>A (C1QTNF5) NP_056460.1:n.-1690G>A
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