Canonical Allele Identifier: CA477155315
Gene: MFRP HGNC NCBI
C1QTNF5 HGNC NCBI

Linked Data

dbSNP Id: rs1442940491
gnomAD v2: 11-119212327-G-T
gnomAD v3: 11-119341617-G-T
gnomAD v4: 11-119341617-G-T
MyVariant Identifiers: chr11:g.119212327G>T (hg19) chr11:g.119341617G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119341617G>T , CM000673.2:g.119341617G>T GRCh38
NC_000011.9:g.119212327G>T , CM000673.1:g.119212327G>T GRCh37
NC_000011.8:g.118717537G>T NCBI36
NG_012235.1:g.10057C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000619721.6:c.1671C>A (MFRP) MANE Select ENSP00000481824.1:p.Gly557=
ENST00000360167.4:c.1317C>A (MFRP) ENSP00000353291.4:p.Gly439=
ENST00000449574.7:c.542C>A (MFRP)
ENST00000619721.5:c.1671C>A (MFRP) ENSP00000481824.1:p.Gly557=
NM_015645.4:c.-966C>A (C1QTNF5) NP_056460.1:n.-966C>A
NM_031433.3:c.1671C>A (MFRP) NP_113621.1:p.Gly557=
NM_031433.4:c.1671C>A (MFRP) MANE Select NP_113621.1:p.Gly557=
NM_015645.5:c.-966C>A (C1QTNF5) NP_056460.1:n.-966C>A
Search 100 bp 5'
Search 100 bp 3'