Canonical Allele Identifier: CA10633775

Gene: MFRP C1QTNF5

Linked Data

• ClinVar Variation Id: 302942
• ClinVar RCV Id: RCV000264174 ; RCV000356525 ; RCV001107445
• dbSNP Id: rs556985308
• gnomAD v2: 11-119211942-G-C
• gnomAD v3: 11-119341232-G-C
• gnomAD v4: 11-119341232-G-C
• MyVariant Identifiers: chr11:g.119211942G>C (hg19) ; chr11:g.119341232G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119341232G>C , CM000673.2:g.119341232G>C	GRCh38
NC_000011.9:g.119211942G>C , CM000673.1:g.119211942G>C	GRCh37
NC_000011.8:g.118717152G>C	NCBI36
NG_012235.1:g.10442C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.*316C>G (MFRP) MANE Select	ENSP00000481824.1:n.*316C>G
ENST00000619721.5:c.*316C>G (MFRP)	ENSP00000481824.1:n.*316C>G
NM_015645.4:c.-581C>G (C1QTNF5)	NP_056460.1:n.-581C>G
NM_031433.3:c.*316C>G (MFRP)	NP_113621.1:n.*316C>G
NM_031433.4:c.*316C>G (MFRP) MANE Select	NP_113621.1:n.*316C>G
NM_015645.5:c.-581C>G (C1QTNF5)	NP_056460.1:n.-581C>G