Canonical Allele Identifier: CA4761062

Gene: CHD7

Linked Data

• ClinVar Variation Id: 363486
• ClinVar RCV Id: RCV000267205 ; RCV000359572 ; RCV001753840 ; RCV002317863 ; RCV003972534
• dbSNP Id: rs187751757
• ExAC: 8:61778238 G / A
• gnomAD v2: 8-61778238-G-A
• gnomAD v3: 8-60865679-G-A
• gnomAD v4: 8-60865679-G-A
• MyVariant Identifiers: chr8:g.61778238G>A (hg19) ; chr8:g.60865679G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865679G>A , CM000670.2:g.60865679G>A	GRCh38
NC_000008.10:g.61778238G>A , CM000670.1:g.61778238G>A	GRCh37
NC_000008.9:g.61940792G>A	NCBI36
NG_007009.1:g.191900G>A , LRG_176:g.191900G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1916G>A
ENST00000695852.1:n.847G>A
ENST00000695853.1:c.*1799G>A	ENSP00000512218.1:n.*1799G>A
ENST00000423902.7:c.8740G>A MANE Select	ENSP00000392028.1:p.Gly2914Arg
ENST00000423902.6:c.8740G>A	ENSP00000392028.1:p.Gly2914Arg
ENST00000524602.5:c.2593G>A	ENSP00000437061.1:p.Gly865Arg
NM_001316690.1:c.2593G>A	NP_001303619.1:p.Gly865Arg
NM_017780.3:c.8740G>A	NP_060250.2:p.Gly2914Arg
XM_011517553.1:c.8830G>A	XP_011515855.1:p.Gly2944Arg
XM_011517554.1:c.8830G>A	XP_011515856.1:p.Gly2944Arg
XM_011517555.1:c.8827G>A	XP_011515857.1:p.Gly2943Arg
XM_011517556.1:c.8608G>A	XP_011515858.1:p.Gly2870Arg
XM_011517557.1:c.6817G>A	XP_011515859.1:p.Gly2273Arg
XM_011517558.1:c.6367G>A	XP_011515860.1:p.Gly2123Arg
XM_011517559.1:c.5575G>A	XP_011515861.1:p.Gly1859Arg
XM_011517553.2:c.8830G>A	XP_011515855.1:p.Gly2944Arg
XM_011517554.3:c.8830G>A	XP_011515856.1:p.Gly2944Arg
XM_011517555.2:c.8827G>A	XP_011515857.1:p.Gly2943Arg
XM_017013612.1:c.8830G>A	XP_016869101.1:p.Gly2944Arg
XM_017013613.1:c.8737G>A	XP_016869102.1:p.Gly2913Arg
NM_017780.4:c.8740G>A MANE Select	NP_060250.2:p.Gly2914Arg