Canonical Allele Identifier: CA177329150

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1418416
• ClinVar RCV Id: RCV001930929
• dbSNP Id: rs113877656
• gnomAD v4: 8-60865112-A-G
• MyVariant Identifiers: chr8:g.61777671A>G (hg19) ; chr8:g.60865112A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865112A>G , CM000670.2:g.60865112A>G	GRCh38
NC_000008.10:g.61777671A>G , CM000670.1:g.61777671A>G	GRCh37
NC_000008.9:g.61940225A>G	NCBI36
NG_007009.1:g.191333A>G , LRG_176:g.191333A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1349A>G
ENST00000695852.1:n.280A>G
ENST00000695853.1:c.*1232A>G	ENSP00000512218.1:n.*1232A>G
ENST00000423902.7:c.8173A>G MANE Select	ENSP00000392028.1:p.Ile2725Val
ENST00000423902.6:c.8173A>G	ENSP00000392028.1:p.Ile2725Val
ENST00000524602.5:c.2026A>G	ENSP00000437061.1:p.Ile676Val
ENST00000528280.1:n.219A>G
ENST00000532149.1:n.595A>G
ENST00000618450.1:n.4209A>G
NM_001316690.1:c.2026A>G	NP_001303619.1:p.Ile676Val
NM_017780.3:c.8173A>G	NP_060250.2:p.Ile2725Val
XM_011517553.1:c.8263A>G	XP_011515855.1:p.Ile2755Val
XM_011517554.1:c.8263A>G	XP_011515856.1:p.Ile2755Val
XM_011517555.1:c.8260A>G	XP_011515857.1:p.Ile2754Val
XM_011517556.1:c.8041A>G	XP_011515858.1:p.Ile2681Val
XM_011517557.1:c.6250A>G	XP_011515859.1:p.Ile2084Val
XM_011517558.1:c.5800A>G	XP_011515860.1:p.Ile1934Val
XM_011517559.1:c.5008A>G	XP_011515861.1:p.Ile1670Val
XM_011517553.2:c.8263A>G	XP_011515855.1:p.Ile2755Val
XM_011517554.3:c.8263A>G	XP_011515856.1:p.Ile2755Val
XM_011517555.2:c.8260A>G	XP_011515857.1:p.Ile2754Val
XM_017013612.1:c.8263A>G	XP_016869101.1:p.Ile2755Val
XM_017013613.1:c.8170A>G	XP_016869102.1:p.Ile2724Val
NM_017780.4:c.8173A>G MANE Select	NP_060250.2:p.Ile2725Val