Canonical Allele Identifier: CA891843136

Gene: CHD7

Linked Data

• ClinVar Variation Id: 572561
• ClinVar RCV Id: RCV000693970
• dbSNP Id: rs1563645417
• MyVariant Identifiers: chr8:g.61750775dup (hg19) ; chr8:g.60838216dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60838216dup , CM000670.2:g.60838216dup	GRCh38
NC_000008.10:g.61750775dup , CM000670.1:g.61750775dup	GRCh37
NC_000008.9:g.61913329dup	NCBI36
NG_007009.1:g.164437dup , LRG_176:g.164437dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.4494dup	ENSP00000512218.1:p.Thr1499TyrfsTer3
ENST00000423902.7:c.4494dup MANE Select	ENSP00000392028.1:p.Thr1499TyrfsTer3
ENST00000423902.6:c.4494dup	ENSP00000392028.1:p.Thr1499TyrfsTer3
ENST00000524602.5:c.1717-24013dup	ENSP00000437061.1:n.1717-24013dup
NM_001316690.1:c.1717-24013dup	NP_001303619.1:n.1717-24013dup
NM_017780.3:c.4494dup	NP_060250.2:p.Thr1499TyrfsTer3
XM_011517553.1:c.4494dup	XP_011515855.1:p.Thr1499TyrfsTer3
XM_011517554.1:c.4494dup	XP_011515856.1:p.Thr1499TyrfsTer3
XM_011517555.1:c.4494dup	XP_011515857.1:p.Thr1499TyrfsTer3
XM_011517556.1:c.4494dup	XP_011515858.1:p.Thr1499TyrfsTer3
XM_011517557.1:c.2481dup	XP_011515859.1:p.Thr828TyrfsTer3
XM_011517558.1:c.2031dup	XP_011515860.1:p.Thr678TyrfsTer3
XM_011517559.1:c.1239dup	XP_011515861.1:p.Thr414TyrfsTer3
XM_011517560.1:c.4494dup	XP_011515862.1:p.Thr1499TyrfsTer3
XM_011517553.2:c.4494dup	XP_011515855.1:p.Thr1499TyrfsTer3
XM_011517554.3:c.4494dup	XP_011515856.1:p.Thr1499TyrfsTer3
XM_011517555.2:c.4494dup	XP_011515857.1:p.Thr1499TyrfsTer3
XM_011517560.2:c.4494dup	XP_011515862.1:p.Thr1499TyrfsTer3
XM_017013612.1:c.4494dup	XP_016869101.1:p.Thr1499TyrfsTer3
XM_017013613.1:c.4494dup	XP_016869102.1:p.Thr1499TyrfsTer3
NM_017780.4:c.4494dup MANE Select	NP_060250.2:p.Thr1499TyrfsTer3