Canonical Allele Identifier: CA371308530

Gene: CHD7

Linked Data

• dbSNP Id: rs1451693602
• gnomAD v2: 8-61777840-C-G
• gnomAD v4: 8-60865281-C-G
• MyVariant Identifiers: chr8:g.61777840C>G (hg19) ; chr8:g.60865281C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865281C>G , CM000670.2:g.60865281C>G	GRCh38
NC_000008.10:g.61777840C>G , CM000670.1:g.61777840C>G	GRCh37
NC_000008.9:g.61940394C>G	NCBI36
NG_007009.1:g.191502C>G , LRG_176:g.191502C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1518C>G
ENST00000695852.1:n.449C>G
ENST00000695853.1:c.*1401C>G	ENSP00000512218.1:n.*1401C>G
ENST00000423902.7:c.8342C>G MANE Select	ENSP00000392028.1:p.Thr2781Arg
ENST00000423902.6:c.8342C>G	ENSP00000392028.1:p.Thr2781Arg
ENST00000524602.5:c.2195C>G	ENSP00000437061.1:p.Thr732Arg
ENST00000528280.1:n.388C>G
NM_001316690.1:c.2195C>G	NP_001303619.1:p.Thr732Arg
NM_017780.3:c.8342C>G	NP_060250.2:p.Thr2781Arg
XM_011517553.1:c.8432C>G	XP_011515855.1:p.Thr2811Arg
XM_011517554.1:c.8432C>G	XP_011515856.1:p.Thr2811Arg
XM_011517555.1:c.8429C>G	XP_011515857.1:p.Thr2810Arg
XM_011517556.1:c.8210C>G	XP_011515858.1:p.Thr2737Arg
XM_011517557.1:c.6419C>G	XP_011515859.1:p.Thr2140Arg
XM_011517558.1:c.5969C>G	XP_011515860.1:p.Thr1990Arg
XM_011517559.1:c.5177C>G	XP_011515861.1:p.Thr1726Arg
XM_011517553.2:c.8432C>G	XP_011515855.1:p.Thr2811Arg
XM_011517554.3:c.8432C>G	XP_011515856.1:p.Thr2811Arg
XM_011517555.2:c.8429C>G	XP_011515857.1:p.Thr2810Arg
XM_017013612.1:c.8432C>G	XP_016869101.1:p.Thr2811Arg
XM_017013613.1:c.8339C>G	XP_016869102.1:p.Thr2780Arg
NM_017780.4:c.8342C>G MANE Select	NP_060250.2:p.Thr2781Arg