Canonical Allele Identifier: CA6320391

Gene: MFRP C1QTNF5

Linked Data

• ClinVar Variation Id: 302965
• ClinVar RCV Id: RCV000288629 ; RCV000383217 ; RCV001104328
• dbSNP Id: rs751729583
• ExAC: 11:119215454 A / T
• gnomAD v2: 11-119215454-A-T
• gnomAD v3: 11-119344744-A-T
• gnomAD v4: 11-119344744-A-T
• MyVariant Identifiers: chr11:g.119215454A>T (hg19) ; chr11:g.119344744A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119344744A>T , CM000673.2:g.119344744A>T	GRCh38
NC_000011.9:g.119215454A>T , CM000673.1:g.119215454A>T	GRCh37
NC_000011.8:g.118720664A>T	NCBI36
NG_012235.1:g.6930T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.786T>A (MFRP) MANE Select	ENSP00000481824.1:p.His262Gln
ENST00000360167.4:c.786T>A (MFRP)	ENSP00000353291.4:p.His262Gln
ENST00000529147.2:n.749T>A (MFRP)
ENST00000619721.5:c.786T>A (MFRP)	ENSP00000481824.1:p.His262Gln
NM_015645.4:c.-1851T>A (C1QTNF5)	NP_056460.1:n.-1851T>A
NM_031433.3:c.786T>A (MFRP)	NP_113621.1:p.His262Gln
NM_031433.4:c.786T>A (MFRP) MANE Select	NP_113621.1:p.His262Gln
NM_015645.5:c.-1851T>A (C1QTNF5)	NP_056460.1:n.-1851T>A