Canonical Allele Identifier: CA177325582

Gene: CHD7

Linked Data

• ClinVar Variation Id: 844852
• ClinVar RCV Id: RCV001047805 ; RCV002489599
• dbSNP Id: rs1046787337
• gnomAD v2: 8-61773536-G-A
• gnomAD v4: 8-60860977-G-A
• MyVariant Identifiers: chr8:g.61773536G>A (hg19) ; chr8:g.60860977G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860977G>A , CM000670.2:g.60860977G>A	GRCh38
NC_000008.10:g.61773536G>A , CM000670.1:g.61773536G>A	GRCh37
NC_000008.9:g.61936090G>A	NCBI36
NG_007009.1:g.187198G>A , LRG_176:g.187198G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.858G>A
ENST00000695851.1:n.62G>A
ENST00000695853.1:c.*741G>A	ENSP00000512218.1:n.*741G>A
ENST00000423902.7:c.7682G>A MANE Select	ENSP00000392028.1:p.Gly2561Glu
ENST00000423902.6:c.7682G>A	ENSP00000392028.1:p.Gly2561Glu
ENST00000524602.5:c.1717-1252G>A	ENSP00000437061.1:n.1717-1252G>A
ENST00000531695.1:n.106G>A
ENST00000618450.1:n.74G>A
NM_001316690.1:c.1717-1252G>A	NP_001303619.1:n.1717-1252G>A
NM_017780.3:c.7682G>A	NP_060250.2:p.Gly2561Glu
XM_011517553.1:c.7772G>A	XP_011515855.1:p.Gly2591Glu
XM_011517554.1:c.7772G>A	XP_011515856.1:p.Gly2591Glu
XM_011517555.1:c.7769G>A	XP_011515857.1:p.Gly2590Glu
XM_011517556.1:c.7699-1219G>A	XP_011515858.1:n.7699-1219G>A
XM_011517557.1:c.5759G>A	XP_011515859.1:p.Gly1920Glu
XM_011517558.1:c.5309G>A	XP_011515860.1:p.Gly1770Glu
XM_011517559.1:c.4517G>A	XP_011515861.1:p.Gly1506Glu
XM_011517553.2:c.7772G>A	XP_011515855.1:p.Gly2591Glu
XM_011517554.3:c.7772G>A	XP_011515856.1:p.Gly2591Glu
XM_011517555.2:c.7769G>A	XP_011515857.1:p.Gly2590Glu
XM_017013612.1:c.7772G>A	XP_016869101.1:p.Gly2591Glu
XM_017013613.1:c.7679G>A	XP_016869102.1:p.Gly2560Glu
NM_017780.4:c.7682G>A MANE Select	NP_060250.2:p.Gly2561Glu