Canonical Allele Identifier: CA249169

Gene: CHD7

Linked Data

• ClinVar Variation Id: 218746
• ClinVar RCV Id: RCV000202970 ; RCV000782187 ; RCV001853271 ; RCV002433898
• dbSNP Id: rs765315726
• ExAC: 8:61777854 G / A
• gnomAD v2: 8-61777854-G-A
• gnomAD v3: 8-60865295-G-A
• gnomAD v4: 8-60865295-G-A
• COSMIC: COSM5026922
• MyVariant Identifiers: chr8:g.61777854G>A (hg19) ; chr8:g.60865295G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865295G>A , CM000670.2:g.60865295G>A	GRCh38
NC_000008.10:g.61777854G>A , CM000670.1:g.61777854G>A	GRCh37
NC_000008.9:g.61940408G>A	NCBI36
NG_007009.1:g.191516G>A , LRG_176:g.191516G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1532G>A
ENST00000695852.1:n.463G>A
ENST00000695853.1:c.*1415G>A	ENSP00000512218.1:n.*1415G>A
ENST00000423902.7:c.8356G>A MANE Select	ENSP00000392028.1:p.Gly2786Arg
ENST00000423902.6:c.8356G>A	ENSP00000392028.1:p.Gly2786Arg
ENST00000524602.5:c.2209G>A	ENSP00000437061.1:p.Gly737Arg
ENST00000528280.1:n.402G>A
NM_001316690.1:c.2209G>A	NP_001303619.1:p.Gly737Arg
NM_017780.3:c.8356G>A	NP_060250.2:p.Gly2786Arg
XM_011517553.1:c.8446G>A	XP_011515855.1:p.Gly2816Arg
XM_011517554.1:c.8446G>A	XP_011515856.1:p.Gly2816Arg
XM_011517555.1:c.8443G>A	XP_011515857.1:p.Gly2815Arg
XM_011517556.1:c.8224G>A	XP_011515858.1:p.Gly2742Arg
XM_011517557.1:c.6433G>A	XP_011515859.1:p.Gly2145Arg
XM_011517558.1:c.5983G>A	XP_011515860.1:p.Gly1995Arg
XM_011517559.1:c.5191G>A	XP_011515861.1:p.Gly1731Arg
XM_011517553.2:c.8446G>A	XP_011515855.1:p.Gly2816Arg
XM_011517554.3:c.8446G>A	XP_011515856.1:p.Gly2816Arg
XM_011517555.2:c.8443G>A	XP_011515857.1:p.Gly2815Arg
XM_017013612.1:c.8446G>A	XP_016869101.1:p.Gly2816Arg
XM_017013613.1:c.8353G>A	XP_016869102.1:p.Gly2785Arg
NM_017780.4:c.8356G>A MANE Select	NP_060250.2:p.Gly2786Arg