Canonical Allele Identifier: CA4760865

Gene: CHD7

Linked Data

• dbSNP Id: rs759842544
• ExAC: 8:61773537 A / G
• gnomAD v2: 8-61773537-A-G
• gnomAD v4: 8-60860978-A-G
• COSMIC: COSM4961604
• MyVariant Identifiers: chr8:g.61773537A>G (hg19) ; chr8:g.60860978A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860978A>G , CM000670.2:g.60860978A>G	GRCh38
NC_000008.10:g.61773537A>G , CM000670.1:g.61773537A>G	GRCh37
NC_000008.9:g.61936091A>G	NCBI36
NG_007009.1:g.187199A>G , LRG_176:g.187199A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.859A>G
ENST00000695851.1:n.63A>G
ENST00000695853.1:c.*742A>G	ENSP00000512218.1:n.*742A>G
ENST00000423902.7:c.7683A>G MANE Select	ENSP00000392028.1:p.Gly2561=
ENST00000423902.6:c.7683A>G	ENSP00000392028.1:p.Gly2561=
ENST00000524602.5:c.1717-1251A>G	ENSP00000437061.1:n.1717-1251A>G
ENST00000531695.1:n.107A>G
ENST00000618450.1:n.75A>G
NM_001316690.1:c.1717-1251A>G	NP_001303619.1:n.1717-1251A>G
NM_017780.3:c.7683A>G	NP_060250.2:p.Gly2561=
XM_011517553.1:c.7773A>G	XP_011515855.1:p.Gly2591=
XM_011517554.1:c.7773A>G	XP_011515856.1:p.Gly2591=
XM_011517555.1:c.7770A>G	XP_011515857.1:p.Gly2590=
XM_011517556.1:c.7699-1218A>G	XP_011515858.1:n.7699-1218A>G
XM_011517557.1:c.5760A>G	XP_011515859.1:p.Gly1920=
XM_011517558.1:c.5310A>G	XP_011515860.1:p.Gly1770=
XM_011517559.1:c.4518A>G	XP_011515861.1:p.Gly1506=
XM_011517553.2:c.7773A>G	XP_011515855.1:p.Gly2591=
XM_011517554.3:c.7773A>G	XP_011515856.1:p.Gly2591=
XM_011517555.2:c.7770A>G	XP_011515857.1:p.Gly2590=
XM_017013612.1:c.7773A>G	XP_016869101.1:p.Gly2591=
XM_017013613.1:c.7680A>G	XP_016869102.1:p.Gly2560=
NM_017780.4:c.7683A>G MANE Select	NP_060250.2:p.Gly2561=