Canonical Allele Identifier: CA6319902

Gene: C1QTNF5 MFRP

Linked Data

• dbSNP Id: rs376692123
• ExAC: 11:119210101 G / C
• gnomAD v2: 11-119210101-G-C
• gnomAD v3: 11-119339391-G-C
• gnomAD v4: 11-119339391-G-C
• MyVariant Identifiers: chr11:g.119210101G>C (hg19) ; chr11:g.119339391G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119339391G>C , CM000673.2:g.119339391G>C	GRCh38
NC_000011.9:g.119210101G>C , CM000673.1:g.119210101G>C	GRCh37
NC_000011.8:g.118715311G>C	NCBI36
NG_012235.1:g.12283C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528368.3:c.672C>G (C1QTNF5) MANE Select	ENSP00000431140.1:p.Asp224Glu
ENST00000619721.6:c.*1568C>G (MFRP) MANE Select	ENSP00000481824.1:n.*1568C>G
ENST00000525657.2:n.562C>G (C1QTNF5)
ENST00000528368.2:c.672C>G (C1QTNF5)	ENSP00000431140.1:p.Asp224Glu
ENST00000530681.2:c.672C>G (C1QTNF5)	ENSP00000456533.2:p.Asp224Glu
ENST00000619721.5:c.*1568C>G (MFRP)	ENSP00000481824.1:n.*1568C>G
NM_001278431.1:c.672C>G (C1QTNF5)	NP_001265360.1:p.Asp224Glu
NM_015645.4:c.672C>G (C1QTNF5)	NP_056460.1:p.Asp224Glu
NM_031433.3:c.*1568C>G (MFRP)	NP_113621.1:n.*1568C>G
NM_001278431.2:c.672C>G (C1QTNF5) MANE Select	NP_001265360.1:p.Asp224Glu
NM_031433.4:c.*1568C>G (MFRP) MANE Select	NP_113621.1:n.*1568C>G
NM_015645.5:c.672C>G (C1QTNF5)	NP_056460.1:p.Asp224Glu