Canonical Allele Identifier: CA10637989

Gene: C1QTNF5 MFRP

Linked Data

• ClinVar Variation Id: 302920
• ClinVar RCV Id: RCV000328975 ; RCV000385816 ; RCV001106626
• dbSNP Id: rs886047816
• gnomAD v4: 11-119339080-G-A
• MyVariant Identifiers: chr11:g.119209790G>A (hg19) ; chr11:g.119339080G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119339080G>A , CM000673.2:g.119339080G>A	GRCh38
NC_000011.9:g.119209790G>A , CM000673.1:g.119209790G>A	GRCh37
NC_000011.8:g.118715000G>A	NCBI36
NG_012235.1:g.12594C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000528368.3:c.*251C>T (C1QTNF5) MANE Select	ENSP00000431140.1:n.*251C>T
ENST00000619721.6:c.*1879C>T (MFRP) MANE Select	ENSP00000481824.1:n.*1879C>T
ENST00000528368.2:c.*251C>T (C1QTNF5)	ENSP00000431140.1:n.*251C>T
ENST00000619721.5:c.*1879C>T (MFRP)	ENSP00000481824.1:n.*1879C>T
NM_001278431.1:c.*251C>T (C1QTNF5)	NP_001265360.1:n.*251C>T
NM_015645.4:c.*251C>T (C1QTNF5)	NP_056460.1:n.*251C>T
NM_031433.3:c.*1879C>T (MFRP)	NP_113621.1:n.*1879C>T
NM_001278431.2:c.*251C>T (C1QTNF5) MANE Select	NP_001265360.1:n.*251C>T
NM_031433.4:c.*1879C>T (MFRP) MANE Select	NP_113621.1:n.*1879C>T
NM_015645.5:c.*251C>T (C1QTNF5)	NP_056460.1:n.*251C>T