Canonical Allele Identifier: CA10633791

Gene: MFRP C1QTNF5

Linked Data

• ClinVar Variation Id: 302950
• ClinVar RCV Id: RCV000406772 ; RCV001106886 ; RCV001106885
• dbSNP Id: rs372014001
• gnomAD v2: 11-119212486-C-T
• gnomAD v3: 11-119341776-C-T
• gnomAD v4: 11-119341776-C-T
• MyVariant Identifiers: chr11:g.119212486C>T (hg19) ; chr11:g.119341776C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119341776C>T , CM000673.2:g.119341776C>T	GRCh38
NC_000011.9:g.119212486C>T , CM000673.1:g.119212486C>T	GRCh37
NC_000011.8:g.118717696C>T	NCBI36
NG_012235.1:g.9898G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.1516-4G>A (MFRP) MANE Select	ENSP00000481824.1:n.1516-4G>A
ENST00000360167.4:c.1162-4G>A (MFRP)	ENSP00000353291.4:n.1162-4G>A
ENST00000449574.7:c.387-4G>A (MFRP)
ENST00000619721.5:c.1516-4G>A (MFRP)	ENSP00000481824.1:n.1516-4G>A
NM_015645.4:c.-1121-4G>A (C1QTNF5)	NP_056460.1:n.-1121-4G>A
NM_031433.3:c.1516-4G>A (MFRP)	NP_113621.1:n.1516-4G>A
NM_031433.4:c.1516-4G>A (MFRP) MANE Select	NP_113621.1:n.1516-4G>A
NM_015645.5:c.-1121-4G>A (C1QTNF5)	NP_056460.1:n.-1121-4G>A