Canonical Allele Identifier: CA1788120207

Gene: CHD7

Linked Data

• dbSNP Id: rs1805934435
• gnomAD v3: 8-60860815-C-CCATT
• gnomAD v4: 8-60860815-C-CCATT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860817_60860820dup , CM000670.2:g.60860817_60860820dup	GRCh38
NC_000008.10:g.61773376_61773379dup , CM000670.1:g.61773376_61773379dup	GRCh37
NC_000008.9:g.61935930_61935933dup	NCBI36
NG_007009.1:g.187038_187041dup , LRG_176:g.187038_187041dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.785-87_785-84dup
ENST00000695853.1:c.*668-87_*668-84dup	ENSP00000512218.1:n.*668-87_*668-84dup
ENST00000423902.7:c.7609-87_7609-84dup MANE Select	ENSP00000392028.1:n.7609-87_7609-84dup
ENST00000423902.6:c.7609-87_7609-84dup	ENSP00000392028.1:n.7609-87_7609-84dup
ENST00000524602.5:c.1717-1412_1717-1409dup	ENSP00000437061.1:n.1717-1412_1717-1409dup
ENST00000531695.1:n.33-87_33-84dup
NM_001316690.1:c.1717-1412_1717-1409dup	NP_001303619.1:n.1717-1412_1717-1409dup
NM_017780.3:c.7609-87_7609-84dup	NP_060250.2:n.7609-87_7609-84dup
XM_011517553.1:c.7699-87_7699-84dup	XP_011515855.1:n.7699-87_7699-84dup
XM_011517554.1:c.7699-87_7699-84dup	XP_011515856.1:n.7699-87_7699-84dup
XM_011517555.1:c.7696-87_7696-84dup	XP_011515857.1:n.7696-87_7696-84dup
XM_011517556.1:c.7699-1379_7699-1376dup	XP_011515858.1:n.7699-1379_7699-1376dup
XM_011517557.1:c.5686-87_5686-84dup	XP_011515859.1:n.5686-87_5686-84dup
XM_011517558.1:c.5236-87_5236-84dup	XP_011515860.1:n.5236-87_5236-84dup
XM_011517559.1:c.4444-87_4444-84dup	XP_011515861.1:n.4444-87_4444-84dup
XM_011517553.2:c.7699-87_7699-84dup	XP_011515855.1:n.7699-87_7699-84dup
XM_011517554.3:c.7699-87_7699-84dup	XP_011515856.1:n.7699-87_7699-84dup
XM_011517555.2:c.7696-87_7696-84dup	XP_011515857.1:n.7696-87_7696-84dup
XM_017013612.1:c.7699-87_7699-84dup	XP_016869101.1:n.7699-87_7699-84dup
XM_017013613.1:c.7606-87_7606-84dup	XP_016869102.1:n.7606-87_7606-84dup
NM_017780.4:c.7609-87_7609-84dup MANE Select	NP_060250.2:n.7609-87_7609-84dup