Canonical Allele Identifier: CA10637457

Gene: C1QTNF5 MFRP

Linked Data

• ClinVar Variation Id: 302935
• ClinVar RCV Id: RCV000342277 ; RCV000380577 ; RCV001103730
• dbSNP Id: rs886047821
• gnomAD v4: 11-119340453-C-T
• MyVariant Identifiers: chr11:g.119211163C>T (hg19) ; chr11:g.119340453C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119340453C>T , CM000673.2:g.119340453C>T	GRCh38
NC_000011.9:g.119211163C>T , CM000673.1:g.119211163C>T	GRCh37
NC_000011.8:g.118716373C>T	NCBI36
NG_012235.1:g.11221G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528368.3:c.-43-13G>A (C1QTNF5) MANE Select	ENSP00000431140.1:n.-43-13G>A
ENST00000619721.6:c.*854-13G>A (MFRP) MANE Select	ENSP00000481824.1:n.*854-13G>A
ENST00000525657.2:n.104+242G>A (C1QTNF5)
ENST00000528368.2:c.-43-13G>A (C1QTNF5)	ENSP00000431140.1:n.-43-13G>A
ENST00000530681.2:c.-56G>A (C1QTNF5)	ENSP00000456533.2:n.-56G>A
ENST00000619721.5:c.*854-13G>A (MFRP)	ENSP00000481824.1:n.*854-13G>A
ENST00000634633.1:c.-43-13G>A (C1QTNF5)	ENSP00000489201.1:n.-43-13G>A
NM_001278431.1:c.-43-13G>A (C1QTNF5)	NP_001265360.1:n.-43-13G>A
NM_015645.4:c.-43-13G>A (C1QTNF5)	NP_056460.1:n.-43-13G>A
NM_031433.3:c.*854-13G>A (MFRP)	NP_113621.1:n.*854-13G>A
NM_001278431.2:c.-43-13G>A (C1QTNF5) MANE Select	NP_001265360.1:n.-43-13G>A
NM_031433.4:c.*854-13G>A (MFRP) MANE Select	NP_113621.1:n.*854-13G>A
NM_015645.5:c.-43-13G>A (C1QTNF5)	NP_056460.1:n.-43-13G>A