Canonical Allele Identifier: CA2573143274

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1451416
• ClinVar RCV Id: RCV002007209
• dbSNP Id: rs2150810800

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853256dup , CM000670.2:g.60853256dup	GRCh38
NC_000008.10:g.61765815dup , CM000670.1:g.61765815dup	GRCh37
NC_000008.9:g.61928369dup	NCBI36
NG_007009.1:g.179477dup , LRG_176:g.179477dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6531dup	ENSP00000512218.1:p.Pro2178AlafsTer2
ENST00000423902.7:c.6531dup MANE Select	ENSP00000392028.1:p.Pro2178AlafsTer2
ENST00000423902.6:c.6531dup	ENSP00000392028.1:p.Pro2178AlafsTer2
ENST00000524602.5:c.1717-8973dup	ENSP00000437061.1:n.1717-8973dup
NM_001316690.1:c.1717-8973dup	NP_001303619.1:n.1717-8973dup
NM_017780.3:c.6531dup	NP_060250.2:p.Pro2178AlafsTer2
XM_011517553.1:c.6621dup	XP_011515855.1:p.Pro2208AlafsTer2
XM_011517554.1:c.6621dup	XP_011515856.1:p.Pro2208AlafsTer2
XM_011517555.1:c.6621dup	XP_011515857.1:p.Pro2208AlafsTer2
XM_011517556.1:c.6621dup	XP_011515858.1:p.Pro2208AlafsTer2
XM_011517557.1:c.4608dup	XP_011515859.1:p.Pro1537AlafsTer2
XM_011517558.1:c.4158dup	XP_011515860.1:p.Pro1387AlafsTer2
XM_011517559.1:c.3366dup	XP_011515861.1:p.Pro1123AlafsTer2
XM_011517553.2:c.6621dup	XP_011515855.1:p.Pro2208AlafsTer2
XM_011517554.3:c.6621dup	XP_011515856.1:p.Pro2208AlafsTer2
XM_011517555.2:c.6621dup	XP_011515857.1:p.Pro2208AlafsTer2
XM_017013612.1:c.6621dup	XP_016869101.1:p.Pro2208AlafsTer2
XM_017013613.1:c.6531dup	XP_016869102.1:p.Pro2178AlafsTer2
NM_017780.4:c.6531dup MANE Select	NP_060250.2:p.Pro2178AlafsTer2