Canonical Allele Identifier: CA6320521
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1062183
ClinVar RCV Id: RCV001371870
dbSNP Id: rs201919246
ExAC: 11:119216261 G / A
gnomAD v2: 11-119216261-G-A
gnomAD v3: 11-119345551-G-A
gnomAD v4: 11-119345551-G-A
MyVariant Identifiers: chr11:g.119216261G>A (hg19) chr11:g.119345551G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119345551G>A , CM000673.2:g.119345551G>A GRCh38
NC_000011.9:g.119216261G>A , CM000673.1:g.119216261G>A GRCh37
NC_000011.8:g.118721471G>A NCBI36
NG_012235.1:g.6123C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000619721.6:c.510C>T (MFRP) MANE Select ENSP00000481824.1:p.Cys170=
ENST00000360167.4:c.510C>T (MFRP) ENSP00000353291.4:p.Cys170=
ENST00000529147.2:n.473C>T (MFRP)
ENST00000619721.5:c.510C>T (MFRP) ENSP00000481824.1:p.Cys170=
ENST00000634542.1:c.*101C>T (MFRP) ENSP00000488979.1:n.*101C>T
NM_015645.4:c.-2127C>T (C1QTNF5) NP_056460.1:n.-2127C>T
NM_031433.3:c.510C>T (MFRP) NP_113621.1:p.Cys170=
NM_031433.4:c.510C>T (MFRP) MANE Select NP_113621.1:p.Cys170=
NM_015645.5:c.-2127C>T (C1QTNF5) NP_056460.1:n.-2127C>T
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