Canonical Allele Identifier: CA382971551

Gene: MFRP C1QTNF5

Linked Data

• ClinVar Variation Id: 1378813
• ClinVar RCV Id: RCV001914696
• dbSNP Id: rs2135367742
• MyVariant Identifiers: chr11:g.119212394A>G (hg19) ; chr11:g.119341684A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119341684A>G , CM000673.2:g.119341684A>G	GRCh38
NC_000011.9:g.119212394A>G , CM000673.1:g.119212394A>G	GRCh37
NC_000011.8:g.118717604A>G	NCBI36
NG_012235.1:g.9990T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619721.6:c.1604T>C (MFRP) MANE Select	ENSP00000481824.1:p.Leu535Pro
ENST00000360167.4:c.1250T>C (MFRP)	ENSP00000353291.4:p.Leu417Pro
ENST00000449574.7:c.475T>C (MFRP)
ENST00000619721.5:c.1604T>C (MFRP)	ENSP00000481824.1:p.Leu535Pro
NM_015645.4:c.-1033T>C (C1QTNF5)	NP_056460.1:n.-1033T>C
NM_031433.3:c.1604T>C (MFRP)	NP_113621.1:p.Leu535Pro
NM_031433.4:c.1604T>C (MFRP) MANE Select	NP_113621.1:p.Leu535Pro
NM_015645.5:c.-1033T>C (C1QTNF5)	NP_056460.1:n.-1033T>C