Canonical Allele Identifier: CA915945703

Gene: CHD7

Linked Data

• ClinVar Variation Id: 817591
• ClinVar RCV Id: RCV001008750
• dbSNP Id: rs1586444636

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852621dup , CM000670.2:g.60852621dup	GRCh38
NC_000008.10:g.61765180dup , CM000670.1:g.61765180dup	GRCh37
NC_000008.9:g.61927734dup	NCBI36
NG_007009.1:g.178842dup , LRG_176:g.178842dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6018dup	ENSP00000512218.1:p.Ser2007IlefsTer2
ENST00000423902.7:c.6018dup MANE Select	ENSP00000392028.1:p.Ser2007IlefsTer2
ENST00000423902.6:c.6018dup	ENSP00000392028.1:p.Ser2007IlefsTer2
ENST00000524602.5:c.1717-9608dup	ENSP00000437061.1:n.1717-9608dup
ENST00000527921.1:n.509dup
NM_001316690.1:c.1717-9608dup	NP_001303619.1:n.1717-9608dup
NM_017780.3:c.6018dup	NP_060250.2:p.Ser2007IlefsTer2
XM_011517553.1:c.6108dup	XP_011515855.1:p.Ser2037IlefsTer2
XM_011517554.1:c.6108dup	XP_011515856.1:p.Ser2037IlefsTer2
XM_011517555.1:c.6108dup	XP_011515857.1:p.Ser2037IlefsTer2
XM_011517556.1:c.6108dup	XP_011515858.1:p.Ser2037IlefsTer2
XM_011517557.1:c.4095dup	XP_011515859.1:p.Ser1366IlefsTer2
XM_011517558.1:c.3645dup	XP_011515860.1:p.Ser1216IlefsTer2
XM_011517559.1:c.2853dup	XP_011515861.1:p.Ser952IlefsTer2
XM_011517553.2:c.6108dup	XP_011515855.1:p.Ser2037IlefsTer2
XM_011517554.3:c.6108dup	XP_011515856.1:p.Ser2037IlefsTer2
XM_011517555.2:c.6108dup	XP_011515857.1:p.Ser2037IlefsTer2
XM_017013612.1:c.6108dup	XP_016869101.1:p.Ser2037IlefsTer2
XM_017013613.1:c.6018dup	XP_016869102.1:p.Ser2007IlefsTer2
NM_017780.4:c.6018dup MANE Select	NP_060250.2:p.Ser2007IlefsTer2