Canonical Allele Identifier: CA775156445

Gene: QRICH2

Linked Data

• dbSNP Id: rs1181089123
• gnomAD v3: 17-76287513-G-A
• gnomAD v4: 17-76287513-G-A
• MyVariant Identifiers: chr17:g.74283594G>A (hg19) ; chr17:g.76287513G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76287513G>A , CM000679.2:g.76287513G>A	GRCh38
NC_000017.10:g.74283594G>A , CM000679.1:g.74283594G>A	GRCh37
NC_000017.9:g.71795189G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000680821.2:c.3897-207C>T MANE Select	ENSP00000504874.1:n.3897-207C>T
ENST00000262765.10:c.3399-207C>T	ENSP00000262765.5:n.3399-207C>T
ENST00000636395.1:c.3897-207C>T	ENSP00000490761.1:n.3897-207C>T
ENST00000680821.1:c.3897-207C>T	ENSP00000504874.1:n.3897-207C>T
ENST00000262765.9:c.3399-207C>T	ENSP00000262765.5:n.3399-207C>T
ENST00000447564.2:c.423-207C>T	ENSP00000394461.2:n.423-207C>T
ENST00000524722.1:c.*163-207C>T	ENSP00000432679.1:n.*163-207C>T
NM_032134.2:c.3399-207C>T	NP_115510.1:n.3399-207C>T
NR_130649.1:n.670-207C>T
XM_005257728.2:c.3897-207C>T	XP_005257785.1:n.3897-207C>T
XM_006722136.2:c.159-207C>T	XP_006722199.1:n.159-207C>T
XM_011525344.1:c.3177-207C>T	XP_011523646.1:n.3177-207C>T
XM_005257728.4:c.3897-207C>T	XP_005257785.1:n.3897-207C>T
XM_006722136.3:c.159-207C>T	XP_006722199.1:n.159-207C>T
XM_011525344.2:c.3177-207C>T	XP_011523646.1:n.3177-207C>T
XM_017025206.2:c.3897-207C>T	XP_016880695.1:n.3897-207C>T
XM_017025207.2:c.3837-207C>T	XP_016880696.1:n.3837-207C>T
XM_017025208.1:c.-70-207C>T	XP_016880697.1:n.-70-207C>T
NM_001388453.1:c.3897-207C>T MANE Select	NP_001375382.1:n.3897-207C>T
NM_032134.3:c.3897-207C>T	NP_115510.2:n.3897-207C>T
NR_130649.2:n.1266-207C>T