Canonical Allele Identifier: CA10633774
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 302941
ClinVar RCV Id: RCV000299454 RCV001106807 RCV001107444
dbSNP Id: rs147285871
gnomAD v2: 11-119211775-A-G
gnomAD v3: 11-119341065-A-G
gnomAD v4: 11-119341065-A-G
MyVariant Identifiers: chr11:g.119211775A>G (hg19) chr11:g.119341065A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341065A>G , CM000673.2:g.119341065A>G GRCh38
NC_000011.9:g.119211775A>G , CM000673.1:g.119211775A>G GRCh37
NC_000011.8:g.118716985A>G NCBI36
NG_012235.1:g.10609T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.*483T>C (MFRP) MANE Select ENSP00000481824.1:n.*483T>C
ENST00000619721.5:c.*483T>C (MFRP) ENSP00000481824.1:n.*483T>C
NM_015645.4:c.-414T>C (C1QTNF5) NP_056460.1:n.-414T>C
NM_031433.3:c.*483T>C (MFRP) NP_113621.1:n.*483T>C
NM_031433.4:c.*483T>C (MFRP) MANE Select NP_113621.1:n.*483T>C
NM_015645.5:c.-414T>C (C1QTNF5) NP_056460.1:n.-414T>C
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