Canonical Allele Identifier: CA382971503

Gene: MFRP C1QTNF5

Linked Data

• dbSNP Id: rs1950503860
• gnomAD v3: 11-119341659-C-G
• gnomAD v4: 11-119341659-C-G
• MyVariant Identifiers: chr11:g.119212369C>G (hg19) ; chr11:g.119341659C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119341659C>G , CM000673.2:g.119341659C>G	GRCh38
NC_000011.9:g.119212369C>G , CM000673.1:g.119212369C>G	GRCh37
NC_000011.8:g.118717579C>G	NCBI36
NG_012235.1:g.10015G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.1629G>C (MFRP) MANE Select	ENSP00000481824.1:p.Gln543His
ENST00000360167.4:c.1275G>C (MFRP)	ENSP00000353291.4:p.Gln425His
ENST00000449574.7:c.500G>C (MFRP)
ENST00000619721.5:c.1629G>C (MFRP)	ENSP00000481824.1:p.Gln543His
NM_015645.4:c.-1008G>C (C1QTNF5)	NP_056460.1:n.-1008G>C
NM_031433.3:c.1629G>C (MFRP)	NP_113621.1:p.Gln543His
NM_031433.4:c.1629G>C (MFRP) MANE Select	NP_113621.1:p.Gln543His
NM_015645.5:c.-1008G>C (C1QTNF5)	NP_056460.1:n.-1008G>C