Canonical Allele Identifier: CA2573053029

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1322077
• ClinVar RCV Id: RCV001780497
• dbSNP Id: rs2150581463

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60743065dup , CM000670.2:g.60743065dup	GRCh38
NC_000008.10:g.61655624dup , CM000670.1:g.61655624dup	GRCh37
NC_000008.9:g.61818178dup	NCBI36
NG_007009.1:g.69286dup , LRG_176:g.69286dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2146dup
ENST00000695849.1:n.2146dup
ENST00000695853.1:c.1633dup	ENSP00000512218.1:p.Gln545ProfsTer30
ENST00000700671.1:c.1633dup	ENSP00000515139.1:p.Gln545ProfsTer30
ENST00000423902.7:c.1633dup MANE Select	ENSP00000392028.1:p.Gln545ProfsTer30
ENST00000423902.6:c.1633dup	ENSP00000392028.1:p.Gln545ProfsTer30
ENST00000524602.5:c.1633dup	ENSP00000437061.1:p.Gln545ProfsTer?
ENST00000525508.1:c.1633dup	ENSP00000436027.1:p.Gln545ProfsTer30
ENST00000527825.1:c.277dup
ENST00000527900.1:c.34dup	ENSP00000433336.1:p.Gln12ProfsTer?
NM_001316690.1:c.1633dup	NP_001303619.1:p.Gln545ProfsTer?
NM_017780.3:c.1633dup	NP_060250.2:p.Gln545ProfsTer30
XM_011517553.1:c.1633dup	XP_011515855.1:p.Gln545ProfsTer30
XM_011517554.1:c.1633dup	XP_011515856.1:p.Gln545ProfsTer30
XM_011517555.1:c.1633dup	XP_011515857.1:p.Gln545ProfsTer30
XM_011517556.1:c.1633dup	XP_011515858.1:p.Gln545ProfsTer30
XM_011517560.1:c.1633dup	XP_011515862.1:p.Gln545ProfsTer30
XM_011517553.2:c.1633dup	XP_011515855.1:p.Gln545ProfsTer30
XM_011517554.3:c.1633dup	XP_011515856.1:p.Gln545ProfsTer30
XM_011517555.2:c.1633dup	XP_011515857.1:p.Gln545ProfsTer30
XM_011517560.2:c.1633dup	XP_011515862.1:p.Gln545ProfsTer30
XM_017013612.1:c.1633dup	XP_016869101.1:p.Gln545ProfsTer30
XM_017013613.1:c.1633dup	XP_016869102.1:p.Gln545ProfsTer30
NM_017780.4:c.1633dup MANE Select	NP_060250.2:p.Gln545ProfsTer30