Canonical Allele Identifier: CA6320315

Gene: MFRP C1QTNF5

Linked Data

• ClinVar Variation Id: 302958
• ClinVar RCV Id: RCV000345851 ; RCV000426299 ; RCV001038566 ; RCV001106997 ; RCV002520677
• dbSNP Id: rs142198552
• ExAC: 11:119215029 T / C
• gnomAD v2: 11-119215029-T-C
• gnomAD v3: 11-119344319-T-C
• gnomAD v4: 11-119344319-T-C
• MyVariant Identifiers: chr11:g.119215029T>C (hg19) ; chr11:g.119344319T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119344319T>C , CM000673.2:g.119344319T>C	GRCh38
NC_000011.9:g.119215029T>C , CM000673.1:g.119215029T>C	GRCh37
NC_000011.8:g.118720239T>C	NCBI36
NG_012235.1:g.7355A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.971A>G (MFRP) MANE Select	ENSP00000481824.1:p.Gln324Arg
ENST00000360167.4:c.898+313A>G (MFRP)	ENSP00000353291.4:n.898+313A>G
ENST00000619721.5:c.971A>G (MFRP)	ENSP00000481824.1:p.Gln324Arg
NM_015645.4:c.-1666A>G (C1QTNF5)	NP_056460.1:n.-1666A>G
NM_031433.3:c.971A>G (MFRP)	NP_113621.1:p.Gln324Arg
NM_031433.4:c.971A>G (MFRP) MANE Select	NP_113621.1:p.Gln324Arg
NM_015645.5:c.-1666A>G (C1QTNF5)	NP_056460.1:n.-1666A>G