Canonical Allele Identifier: CA10633783
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 302944
ClinVar RCV Id: RCV000267575 RCV000325030 RCV001107449
dbSNP Id: rs886047825
gnomAD v2: 11-119212060-C-G
gnomAD v3: 11-119341350-C-G
gnomAD v4: 11-119341350-C-G
MyVariant Identifiers: chr11:g.119212060C>G (hg19) chr11:g.119341350C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341350C>G , CM000673.2:g.119341350C>G GRCh38
NC_000011.9:g.119212060C>G , CM000673.1:g.119212060C>G GRCh37
NC_000011.8:g.118717270C>G NCBI36
NG_012235.1:g.10324G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.*198G>C (MFRP) MANE Select ENSP00000481824.1:n.*198G>C
ENST00000619721.5:c.*198G>C (MFRP) ENSP00000481824.1:n.*198G>C
NM_015645.4:c.-699G>C (C1QTNF5) NP_056460.1:n.-699G>C
NM_031433.3:c.*198G>C (MFRP) NP_113621.1:n.*198G>C
NM_031433.4:c.*198G>C (MFRP) MANE Select NP_113621.1:n.*198G>C
NM_015645.5:c.-699G>C (C1QTNF5) NP_056460.1:n.-699G>C
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