Canonical Allele Identifier: CA10638011

Gene: MFRP C1QTNF5

Linked Data

• ClinVar Variation Id: 302946
• ClinVar RCV Id: RCV000290165 ; RCV000347419 ; RCV001103822
• dbSNP Id: rs886047827
• gnomAD v3: 11-119341422-C-G
• gnomAD v4: 11-119341422-C-G
• MyVariant Identifiers: chr11:g.119212132C>G (hg19) ; chr11:g.119341422C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119341422C>G , CM000673.2:g.119341422C>G	GRCh38
NC_000011.9:g.119212132C>G , CM000673.1:g.119212132C>G	GRCh37
NC_000011.8:g.118717342C>G	NCBI36
NG_012235.1:g.10252G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.*126G>C (MFRP) MANE Select	ENSP00000481824.1:n.*126G>C
ENST00000619721.5:c.*126G>C (MFRP)	ENSP00000481824.1:n.*126G>C
NM_015645.4:c.-771G>C (C1QTNF5)	NP_056460.1:n.-771G>C
NM_031433.3:c.*126G>C (MFRP)	NP_113621.1:n.*126G>C
NM_031433.4:c.*126G>C (MFRP) MANE Select	NP_113621.1:n.*126G>C
NM_015645.5:c.-771G>C (C1QTNF5)	NP_056460.1:n.-771G>C