Canonical Allele Identifier: CA294155102

Gene: QRICH2

Linked Data

• dbSNP Id: rs546734845
• gnomAD v2: 17-74283703-C-G
• gnomAD v3: 17-76287622-C-G
• gnomAD v4: 17-76287622-C-G
• MyVariant Identifiers: chr17:g.74283703C>G (hg19) ; chr17:g.76287622C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.76287622C>G , CM000679.2:g.76287622C>G	GRCh38
NC_000017.10:g.74283703C>G , CM000679.1:g.74283703C>G	GRCh37
NC_000017.9:g.71795298C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000680821.2:c.3896+178G>C MANE Select	ENSP00000504874.1:n.3896+178G>C
ENST00000262765.10:c.3398+178G>C	ENSP00000262765.5:n.3398+178G>C
ENST00000636395.1:c.3896+178G>C	ENSP00000490761.1:n.3896+178G>C
ENST00000680821.1:c.3896+178G>C	ENSP00000504874.1:n.3896+178G>C
ENST00000262765.9:c.3398+178G>C	ENSP00000262765.5:n.3398+178G>C
ENST00000447564.2:c.422+178G>C	ENSP00000394461.2:n.422+178G>C
ENST00000524722.1:c.*162+178G>C	ENSP00000432679.1:n.*162+178G>C
NM_032134.2:c.3398+178G>C	NP_115510.1:n.3398+178G>C
NR_130649.1:n.669+178G>C
XM_005257728.2:c.3896+178G>C	XP_005257785.1:n.3896+178G>C
XM_006722136.2:c.158+178G>C	XP_006722199.1:n.158+178G>C
XM_011525344.1:c.3176+178G>C	XP_011523646.1:n.3176+178G>C
XM_005257728.4:c.3896+178G>C	XP_005257785.1:n.3896+178G>C
XM_006722136.3:c.158+178G>C	XP_006722199.1:n.158+178G>C
XM_011525344.2:c.3176+178G>C	XP_011523646.1:n.3176+178G>C
XM_017025206.2:c.3896+178G>C	XP_016880695.1:n.3896+178G>C
XM_017025207.2:c.3836+178G>C	XP_016880696.1:n.3836+178G>C
XM_017025208.1:c.-71+178G>C	XP_016880697.1:n.-71+178G>C
NM_001388453.1:c.3896+178G>C MANE Select	NP_001375382.1:n.3896+178G>C
NM_032134.3:c.3896+178G>C	NP_115510.2:n.3896+178G>C
NR_130649.2:n.1265+178G>C