Canonical Allele Identifier: CA6319989

Gene: C1QTNF5 MFRP

Linked Data

• ClinVar Variation Id: 302930
• ClinVar RCV Id: RCV000330755 ; RCV000369214 ; RCV001106725 ; RCV001517885
• dbSNP Id: rs771777653
• ExAC: 11:119210885 C / T
• gnomAD v2: 11-119210885-C-T
• gnomAD v3: 11-119340175-C-T
• gnomAD v4: 11-119340175-C-T
• MyVariant Identifiers: chr11:g.119210885C>T (hg19) ; chr11:g.119340175C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119340175C>T , CM000673.2:g.119340175C>T	GRCh38
NC_000011.9:g.119210885C>T , CM000673.1:g.119210885C>T	GRCh37
NC_000011.8:g.118716095C>T	NCBI36
NG_012235.1:g.11499G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000528368.3:c.214+9G>A (C1QTNF5) MANE Select	ENSP00000431140.1:n.214+9G>A
ENST00000619721.6:c.*1110+9G>A (MFRP) MANE Select	ENSP00000481824.1:n.*1110+9G>A
ENST00000525657.2:n.105-327G>A (C1QTNF5)
ENST00000528368.2:c.214+9G>A (C1QTNF5)	ENSP00000431140.1:n.214+9G>A
ENST00000530681.2:c.214+9G>A (C1QTNF5)	ENSP00000456533.2:n.214+9G>A
ENST00000619721.5:c.*1110+9G>A (MFRP)	ENSP00000481824.1:n.*1110+9G>A
ENST00000634633.1:c.106+117G>A (C1QTNF5)	ENSP00000489201.1:n.106+117G>A
NM_001278431.1:c.214+9G>A (C1QTNF5)	NP_001265360.1:n.214+9G>A
NM_015645.4:c.214+9G>A (C1QTNF5)	NP_056460.1:n.214+9G>A
NM_031433.3:c.*1110+9G>A (MFRP)	NP_113621.1:n.*1110+9G>A
NM_001278431.2:c.214+9G>A (C1QTNF5) MANE Select	NP_001265360.1:n.214+9G>A
NM_031433.4:c.*1110+9G>A (MFRP) MANE Select	NP_113621.1:n.*1110+9G>A
NM_015645.5:c.214+9G>A (C1QTNF5)	NP_056460.1:n.214+9G>A