Canonical Allele Identifier: CA10630082

Gene: MFRP C1QTNF5

Linked Data

• ClinVar Variation Id: 302945
• ClinVar RCV Id: RCV000382293 ; RCV001103821
• dbSNP Id: rs886047826
• gnomAD v3: 11-119341370-G-A
• gnomAD v4: 11-119341370-G-A
• MyVariant Identifiers: chr11:g.119212080G>A (hg19) ; chr11:g.119341370G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119341370G>A , CM000673.2:g.119341370G>A	GRCh38
NC_000011.9:g.119212080G>A , CM000673.1:g.119212080G>A	GRCh37
NC_000011.8:g.118717290G>A	NCBI36
NG_012235.1:g.10304C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.*178C>T (MFRP) MANE Select	ENSP00000481824.1:n.*178C>T
ENST00000619721.5:c.*178C>T (MFRP)	ENSP00000481824.1:n.*178C>T
NM_015645.4:c.-719C>T (C1QTNF5)	NP_056460.1:n.-719C>T
NM_031433.3:c.*178C>T (MFRP)	NP_113621.1:n.*178C>T
NM_031433.4:c.*178C>T (MFRP) MANE Select	NP_113621.1:n.*178C>T
NM_015645.5:c.-719C>T (C1QTNF5)	NP_056460.1:n.-719C>T