Canonical Allele Identifier: CA2003917171

Gene: MFRP C1QTNF5

Linked Data

• dbSNP Id: rs1950501483
• gnomAD v4: 11-119341455-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119341455A>T , CM000673.2:g.119341455A>T	GRCh38
NC_000011.9:g.119212165A>T , CM000673.1:g.119212165A>T	GRCh37
NC_000011.8:g.118717375A>T	NCBI36
NG_012235.1:g.10219T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000619721.6:c.*93T>A (MFRP) MANE Select	ENSP00000481824.1:n.*93T>A
ENST00000360167.4:c.*93T>A (MFRP)	ENSP00000353291.4:n.*93T>A
ENST00000619721.5:c.*93T>A (MFRP)	ENSP00000481824.1:n.*93T>A
NM_015645.4:c.-804T>A (C1QTNF5)	NP_056460.1:n.-804T>A
NM_031433.3:c.*93T>A (MFRP)	NP_113621.1:n.*93T>A
NM_031433.4:c.*93T>A (MFRP) MANE Select	NP_113621.1:n.*93T>A
NM_015645.5:c.-804T>A (C1QTNF5)	NP_056460.1:n.-804T>A