Canonical Allele Identifier: CA6320621
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

ClinVar Variation Id: 302974
ClinVar RCV Id: RCV000349553 RCV000393049 RCV001104511
dbSNP Id: rs530322096
ExAC: 11:119216607 G / A
gnomAD v2: 11-119216607-G-A
gnomAD v3: 11-119345897-G-A
gnomAD v4: 11-119345897-G-A
MyVariant Identifiers: chr11:g.119216607G>A (hg19) chr11:g.119345897G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119345897G>A , CM000673.2:g.119345897G>A GRCh38
NC_000011.9:g.119216607G>A , CM000673.1:g.119216607G>A GRCh37
NC_000011.8:g.118721817G>A NCBI36
NG_012235.1:g.5777C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.303C>T (MFRP) MANE Select ENSP00000481824.1:p.Ser101=
ENST00000360167.4:c.303C>T (MFRP) ENSP00000353291.4:p.Ser101=
ENST00000526059.1:n.461C>T (MFRP)
ENST00000529147.2:n.266C>T (MFRP)
ENST00000619721.5:c.303C>T (MFRP) ENSP00000481824.1:p.Ser101=
ENST00000634542.1:c.200C>T (MFRP) ENSP00000488979.1:p.Pro67Leu
NM_015645.4:c.-2334C>T (C1QTNF5) NP_056460.1:n.-2334C>T
NM_031433.3:c.303C>T (MFRP) NP_113621.1:p.Ser101=
NM_031433.4:c.303C>T (MFRP) MANE Select NP_113621.1:p.Ser101=
NM_015645.5:c.-2334C>T (C1QTNF5) NP_056460.1:n.-2334C>T
Search 100 bp 5'
Search 100 bp 3'