Canonical Allele Identifier: CA382971541

Gene: MFRP C1QTNF5

Linked Data

• MyVariant Identifiers: chr11:g.119212388G>T (hg19) ; chr11:g.119341678G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119341678G>T , CM000673.2:g.119341678G>T	GRCh38
NC_000011.9:g.119212388G>T , CM000673.1:g.119212388G>T	GRCh37
NC_000011.8:g.118717598G>T	NCBI36
NG_012235.1:g.9996C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.1610C>A (MFRP) MANE Select	ENSP00000481824.1:p.Pro537His
ENST00000360167.4:c.1256C>A (MFRP)	ENSP00000353291.4:p.Pro419His
ENST00000449574.7:c.481C>A (MFRP)
ENST00000619721.5:c.1610C>A (MFRP)	ENSP00000481824.1:p.Pro537His
NM_015645.4:c.-1027C>A (C1QTNF5)	NP_056460.1:n.-1027C>A
NM_031433.3:c.1610C>A (MFRP)	NP_113621.1:p.Pro537His
NM_031433.4:c.1610C>A (MFRP) MANE Select	NP_113621.1:p.Pro537His
NM_015645.5:c.-1027C>A (C1QTNF5)	NP_056460.1:n.-1027C>A