Canonical Allele Identifier: CA371304482

Gene: CHD7

Linked Data

• gnomAD v4: 8-60860989-C-G
• MyVariant Identifiers: chr8:g.61773548C>G (hg19) ; chr8:g.60860989C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860989C>G , CM000670.2:g.60860989C>G	GRCh38
NC_000008.10:g.61773548C>G , CM000670.1:g.61773548C>G	GRCh37
NC_000008.9:g.61936102C>G	NCBI36
NG_007009.1:g.187210C>G , LRG_176:g.187210C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.870C>G
ENST00000695851.1:n.74C>G
ENST00000695853.1:c.*753C>G	ENSP00000512218.1:n.*753C>G
ENST00000423902.7:c.7694C>G MANE Select	ENSP00000392028.1:p.Pro2565Arg
ENST00000423902.6:c.7694C>G	ENSP00000392028.1:p.Pro2565Arg
ENST00000524602.5:c.1717-1240C>G	ENSP00000437061.1:n.1717-1240C>G
ENST00000531695.1:n.118C>G
ENST00000618450.1:n.86C>G
NM_001316690.1:c.1717-1240C>G	NP_001303619.1:n.1717-1240C>G
NM_017780.3:c.7694C>G	NP_060250.2:p.Pro2565Arg
XM_011517553.1:c.7784C>G	XP_011515855.1:p.Pro2595Arg
XM_011517554.1:c.7784C>G	XP_011515856.1:p.Pro2595Arg
XM_011517555.1:c.7781C>G	XP_011515857.1:p.Pro2594Arg
XM_011517556.1:c.7699-1207C>G	XP_011515858.1:n.7699-1207C>G
XM_011517557.1:c.5771C>G	XP_011515859.1:p.Pro1924Arg
XM_011517558.1:c.5321C>G	XP_011515860.1:p.Pro1774Arg
XM_011517559.1:c.4529C>G	XP_011515861.1:p.Pro1510Arg
XM_011517553.2:c.7784C>G	XP_011515855.1:p.Pro2595Arg
XM_011517554.3:c.7784C>G	XP_011515856.1:p.Pro2595Arg
XM_011517555.2:c.7781C>G	XP_011515857.1:p.Pro2594Arg
XM_017013612.1:c.7784C>G	XP_016869101.1:p.Pro2595Arg
XM_017013613.1:c.7691C>G	XP_016869102.1:p.Pro2564Arg
NM_017780.4:c.7694C>G MANE Select	NP_060250.2:p.Pro2565Arg