Canonical Allele Identifier: CA6320719

Gene: MFRP C1QTNF5

Linked Data

• ClinVar Variation Id: 302981
• ClinVar RCV Id: RCV000352705 ; RCV000388518 ; RCV001107920
• dbSNP Id: rs529716845
• ExAC: 11:119217081 C / T
• gnomAD v2: 11-119217081-C-T
• gnomAD v3: 11-119346371-C-T
• gnomAD v4: 11-119346371-C-T
• MyVariant Identifiers: chr11:g.119217081C>T (hg19) ; chr11:g.119346371C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119346371C>T , CM000673.2:g.119346371C>T	GRCh38
NC_000011.9:g.119217081C>T , CM000673.1:g.119217081C>T	GRCh37
NC_000011.8:g.118722291C>T	NCBI36
NG_012235.1:g.5303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.58G>A (MFRP) MANE Select	ENSP00000481824.1:p.Glu20Lys
ENST00000360167.4:c.58G>A (MFRP)	ENSP00000353291.4:p.Glu20Lys
ENST00000526059.1:n.159-55G>A (MFRP)
ENST00000529147.2:n.21G>A (MFRP)
ENST00000619721.5:c.58G>A (MFRP)	ENSP00000481824.1:p.Glu20Lys
ENST00000634542.1:c.54+89G>A (MFRP)	ENSP00000488979.1:n.54+89G>A
NM_015645.4:c.-2579G>A (C1QTNF5)	NP_056460.1:n.-2579G>A
NM_031433.3:c.58G>A (MFRP)	NP_113621.1:p.Glu20Lys
NM_031433.4:c.58G>A (MFRP) MANE Select	NP_113621.1:p.Glu20Lys
NM_015645.5:c.-2579G>A (C1QTNF5)	NP_056460.1:n.-2579G>A