Canonical Allele Identifier: CA229677231

Gene: MFRP C1QTNF5

Linked Data

• dbSNP Id: rs921599209
• gnomAD v4: 11-119344253-A-G
• MyVariant Identifiers: chr11:g.119214963A>G (hg19) ; chr11:g.119344253A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119344253A>G , CM000673.2:g.119344253A>G	GRCh38
NC_000011.9:g.119214963A>G , CM000673.1:g.119214963A>G	GRCh37
NC_000011.8:g.118720173A>G	NCBI36
NG_012235.1:g.7421T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.975+62T>C (MFRP) MANE Select	ENSP00000481824.1:n.975+62T>C
ENST00000360167.4:c.898+379T>C (MFRP)	ENSP00000353291.4:n.898+379T>C
ENST00000619721.5:c.975+62T>C (MFRP)	ENSP00000481824.1:n.975+62T>C
NM_015645.4:c.-1662+62T>C (C1QTNF5)	NP_056460.1:n.-1662+62T>C
NM_031433.3:c.975+62T>C (MFRP)	NP_113621.1:n.975+62T>C
NM_031433.4:c.975+62T>C (MFRP) MANE Select	NP_113621.1:n.975+62T>C
NM_015645.5:c.-1662+62T>C (C1QTNF5)	NP_056460.1:n.-1662+62T>C