Canonical Allele Identifier: CA13493594

Gene: MFRP C1QTNF5

Linked Data

• ClinVar Variation Id: 1224886
• ClinVar RCV Id: RCV001608344
• dbSNP Id: rs10790289
• gnomAD v2: 11-119215165-C-T
• gnomAD v3: 11-119344455-C-T
• gnomAD v4: 11-119344455-C-T
• MyVariant Identifiers: chr11:g.119215165C>T (hg19) ; chr11:g.119344455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119344455C>T , CM000673.2:g.119344455C>T	GRCh38
NC_000011.9:g.119215165C>T , CM000673.1:g.119215165C>T	GRCh37
NC_000011.8:g.118720375C>T	NCBI36
NG_012235.1:g.7219G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000619721.6:c.899-64G>A (MFRP) MANE Select	ENSP00000481824.1:n.899-64G>A
ENST00000360167.4:c.898+177G>A (MFRP)	ENSP00000353291.4:n.898+177G>A
ENST00000619721.5:c.899-64G>A (MFRP)	ENSP00000481824.1:n.899-64G>A
NM_015645.4:c.-1738-64G>A (C1QTNF5)	NP_056460.1:n.-1738-64G>A
NM_031433.3:c.899-64G>A (MFRP)	NP_113621.1:n.899-64G>A
NM_031433.4:c.899-64G>A (MFRP) MANE Select	NP_113621.1:n.899-64G>A
NM_015645.5:c.-1738-64G>A (C1QTNF5)	NP_056460.1:n.-1738-64G>A