Canonical Allele Identifier: CA371311945

Gene: CHD7

Linked Data

• gnomAD v4: 8-60781118-A-G
• MyVariant Identifiers: chr8:g.61693677A>G (hg19) ; chr8:g.60781118A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60781118A>G , CM000670.2:g.60781118A>G	GRCh38
NC_000008.10:g.61693677A>G , CM000670.1:g.61693677A>G	GRCh37
NC_000008.9:g.61856231A>G	NCBI36
NG_007009.1:g.107339A>G , LRG_176:g.107339A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2297A>G
ENST00000695849.1:n.2297A>G
ENST00000695853.1:c.1784A>G	ENSP00000512218.1:p.Gln595Arg
ENST00000700671.1:c.1784A>G	ENSP00000515139.1:p.Gln595Arg
ENST00000423902.7:c.1784A>G MANE Select	ENSP00000392028.1:p.Gln595Arg
ENST00000423902.6:c.1784A>G	ENSP00000392028.1:p.Gln595Arg
ENST00000524602.5:c.1716+68A>G	ENSP00000437061.1:n.1716+68A>G
ENST00000525508.1:c.1784A>G	ENSP00000436027.1:p.Gln595Arg
ENST00000527825.1:c.428A>G
ENST00000527900.1:c.117+68A>G	ENSP00000433336.1:n.117+68A>G
NM_001316690.1:c.1716+68A>G	NP_001303619.1:n.1716+68A>G
NM_017780.3:c.1784A>G	NP_060250.2:p.Gln595Arg
XM_011517553.1:c.1784A>G	XP_011515855.1:p.Gln595Arg
XM_011517554.1:c.1784A>G	XP_011515856.1:p.Gln595Arg
XM_011517555.1:c.1784A>G	XP_011515857.1:p.Gln595Arg
XM_011517556.1:c.1784A>G	XP_011515858.1:p.Gln595Arg
XM_011517560.1:c.1784A>G	XP_011515862.1:p.Gln595Arg
XM_011517553.2:c.1784A>G	XP_011515855.1:p.Gln595Arg
XM_011517554.3:c.1784A>G	XP_011515856.1:p.Gln595Arg
XM_011517555.2:c.1784A>G	XP_011515857.1:p.Gln595Arg
XM_011517560.2:c.1784A>G	XP_011515862.1:p.Gln595Arg
XM_017013612.1:c.1784A>G	XP_016869101.1:p.Gln595Arg
XM_017013613.1:c.1784A>G	XP_016869102.1:p.Gln595Arg
NM_017780.4:c.1784A>G MANE Select	NP_060250.2:p.Gln595Arg