Canonical Allele Identifier: CA6319936

Gene: C1QTNF5 MFRP

Linked Data

• dbSNP Id: rs771385078
• ExAC: 11:119210289 C / T
• gnomAD v2: 11-119210289-C-T
• gnomAD v4: 11-119339579-C-T
• MyVariant Identifiers: chr11:g.119210289C>T (hg19) ; chr11:g.119339579C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119339579C>T , CM000673.2:g.119339579C>T	GRCh38
NC_000011.9:g.119210289C>T , CM000673.1:g.119210289C>T	GRCh37
NC_000011.8:g.118715499C>T	NCBI36
NG_012235.1:g.12095G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528368.3:c.484G>A (C1QTNF5) MANE Select	ENSP00000431140.1:p.Ala162Thr
ENST00000619721.6:c.*1380G>A (MFRP) MANE Select	ENSP00000481824.1:n.*1380G>A
ENST00000525657.2:n.374G>A (C1QTNF5)
ENST00000528368.2:c.484G>A (C1QTNF5)	ENSP00000431140.1:p.Ala162Thr
ENST00000530681.2:c.484G>A (C1QTNF5)	ENSP00000456533.2:p.Ala162Thr
ENST00000619721.5:c.*1380G>A (MFRP)	ENSP00000481824.1:n.*1380G>A
NM_001278431.1:c.484G>A (C1QTNF5)	NP_001265360.1:p.Ala162Thr
NM_015645.4:c.484G>A (C1QTNF5)	NP_056460.1:p.Ala162Thr
NM_031433.3:c.*1380G>A (MFRP)	NP_113621.1:n.*1380G>A
NM_001278431.2:c.484G>A (C1QTNF5) MANE Select	NP_001265360.1:p.Ala162Thr
NM_031433.4:c.*1380G>A (MFRP) MANE Select	NP_113621.1:n.*1380G>A
NM_015645.5:c.484G>A (C1QTNF5)	NP_056460.1:p.Ala162Thr