Canonical Allele Identifier: CA10638009

Gene: MFRP C1QTNF5

Linked Data

• ClinVar Variation Id: 302943
• ClinVar RCV Id: RCV000321456 ; RCV000378383 ; RCV001107446
• dbSNP Id: rs377666251
• gnomAD v2: 11-119212023-C-T
• gnomAD v3: 11-119341313-C-T
• gnomAD v4: 11-119341313-C-T
• MyVariant Identifiers: chr11:g.119212023C>T (hg19) ; chr11:g.119341313C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119341313C>T , CM000673.2:g.119341313C>T	GRCh38
NC_000011.9:g.119212023C>T , CM000673.1:g.119212023C>T	GRCh37
NC_000011.8:g.118717233C>T	NCBI36
NG_012235.1:g.10361G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000619721.6:c.*235G>A (MFRP) MANE Select	ENSP00000481824.1:n.*235G>A
ENST00000619721.5:c.*235G>A (MFRP)	ENSP00000481824.1:n.*235G>A
NM_015645.4:c.-662G>A (C1QTNF5)	NP_056460.1:n.-662G>A
NM_031433.3:c.*235G>A (MFRP)	NP_113621.1:n.*235G>A
NM_031433.4:c.*235G>A (MFRP) MANE Select	NP_113621.1:n.*235G>A
NM_015645.5:c.-662G>A (C1QTNF5)	NP_056460.1:n.-662G>A