Canonical Allele Identifier: CA352753227

Gene: QRICH1

Linked Data

• ClinVar Variation Id: 523657
• ClinVar RCV Id: RCV000627084 ; RCV001194662 ; RCV002225697
• dbSNP Id: rs1236702036
• gnomAD v4: 3-49032715-G-A
• MyVariant Identifiers: chr3:g.49070148G>A (hg19) ; chr3:g.49032715G>A (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49032715G>A , CM000665.2:g.49032715G>A	GRCh38
NC_000003.11:g.49070148G>A , CM000665.1:g.49070148G>A	GRCh37
NC_000003.10:g.49045152G>A	NCBI36
NG_012091.1:g.1728C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411682.2:c.1954C>T	ENSP00000412870.2:p.Arg652Ter
ENST00000703871.1:c.1954C>T	ENSP00000515516.1:p.Arg652Ter
ENST00000703872.1:c.*786C>T	ENSP00000515517.1:n.*786C>T
ENST00000703873.1:c.925C>T	ENSP00000515518.1:p.Arg309Ter
ENST00000703936.1:c.1954C>T	ENSP00000515567.1:p.Arg652Ter
ENST00000703937.1:c.1201C>T	ENSP00000515568.1:p.Arg401Ter
ENST00000703938.1:c.*276C>T	ENSP00000515569.1:n.*276C>T
ENST00000703939.1:c.*727C>T	ENSP00000515570.1:n.*727C>T
ENST00000703940.1:c.*578C>T	ENSP00000515571.1:n.*578C>T
ENST00000703941.1:c.*615C>T	ENSP00000515572.1:n.*615C>T
ENST00000703942.1:c.1954C>T	ENSP00000515573.1:p.Arg652Ter
ENST00000703943.1:c.*647C>T	ENSP00000515574.1:n.*647C>T
ENST00000395443.7:c.1954C>T MANE Select	ENSP00000378830.2:p.Arg652Ter
ENST00000357496.6:c.1954C>T	ENSP00000350094.2:p.Arg652Ter
ENST00000395443.6:c.1954C>T	ENSP00000378830.2:p.Arg652Ter
ENST00000424300.5:c.1954C>T	ENSP00000412890.1:p.Arg652Ter
ENST00000469910.1:n.108C>T
ENST00000477021.1:n.362C>T
ENST00000489642.5:n.567C>T
ENST00000498392.1:n.1116C>T
NM_017730.2:c.1954C>T	NP_060200.2:p.Arg652Ter
NM_198880.1:c.1954C>T	NP_942581.1:p.Arg652Ter
XM_005265248.3:c.1954C>T	XP_005265305.1:p.Arg652Ter
XM_006713212.2:c.1954C>T	XP_006713275.1:p.Arg652Ter
XM_011533862.1:c.1954C>T	XP_011532164.1:p.Arg652Ter
XM_011533863.1:c.1954C>T	XP_011532165.1:p.Arg652Ter
NM_001320580.1:c.1954C>T	NP_001307509.1:p.Arg652Ter
NM_001320581.1:c.1954C>T	NP_001307510.1:p.Arg652Ter
NM_001320582.1:c.1954C>T	NP_001307511.1:p.Arg652Ter
NM_001320583.1:c.1954C>T	NP_001307512.1:p.Arg652Ter
NM_001320584.1:c.1954C>T	NP_001307513.1:p.Arg652Ter
NM_001320585.1:c.1954C>T	NP_001307514.1:p.Arg652Ter
NM_017730.3:c.1954C>T	NP_060200.2:p.Arg652Ter
NM_198880.2:c.1954C>T	NP_942581.1:p.Arg652Ter
NM_198880.3:c.1954C>T MANE Select	NP_942581.1:p.Arg652Ter
NM_001320580.2:c.1954C>T	NP_001307509.1:p.Arg652Ter
NM_001320581.2:c.1954C>T	NP_001307510.1:p.Arg652Ter
NM_001320582.2:c.1954C>T	NP_001307511.1:p.Arg652Ter
NM_001320583.2:c.1954C>T	NP_001307512.1:p.Arg652Ter
NM_017730.4:c.1954C>T	NP_060200.2:p.Arg652Ter