Canonical Allele Identifier: CA16618681
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 419586
ClinVar RCV Id: RCV000482952 RCV001253666
dbSNP Id: rs1064793972
MyVariant Identifiers: chr8:g.61769136del (hg19) chr8:g.60856577del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60856577del , CM000670.2:g.60856577del GRCh38
NC_000008.10:g.61769136del , CM000670.1:g.61769136del GRCh37
NC_000008.9:g.61931690del NCBI36
NG_007009.1:g.182798del , LRG_176:g.182798del

Transcript Alleles

HGVS Amino-acid change
ENST00000695850.1:n.473del
ENST00000695853.1:c.*356del ENSP00000512218.1:n.*356del
ENST00000423902.7:c.7297del MANE Select ENSP00000392028.1:p.Val2433SerfsTer10
ENST00000423902.6:c.7297del ENSP00000392028.1:p.Val2433SerfsTer10
ENST00000524602.5:c.1717-5652del ENSP00000437061.1:n.1717-5652del
ENST00000529472.1:n.478del
NM_001316690.1:c.1717-5652del NP_001303619.1:n.1717-5652del
NM_017780.3:c.7297del NP_060250.2:p.Val2433SerfsTer10
XM_011517553.1:c.7387del XP_011515855.1:p.Val2463SerfsTer10
XM_011517554.1:c.7387del XP_011515856.1:p.Val2463SerfsTer10
XM_011517555.1:c.7384del XP_011515857.1:p.Val2462SerfsTer10
XM_011517556.1:c.7387del XP_011515858.1:p.Val2463SerfsTer10
XM_011517557.1:c.5374del XP_011515859.1:p.Val1792SerfsTer10
XM_011517558.1:c.4924del XP_011515860.1:p.Val1642SerfsTer10
XM_011517559.1:c.4132del XP_011515861.1:p.Val1378SerfsTer10
XM_011517553.2:c.7387del XP_011515855.1:p.Val2463SerfsTer10
XM_011517554.3:c.7387del XP_011515856.1:p.Val2463SerfsTer10
XM_011517555.2:c.7384del XP_011515857.1:p.Val2462SerfsTer10
XM_017013612.1:c.7387del XP_016869101.1:p.Val2463SerfsTer10
XM_017013613.1:c.7294del XP_016869102.1:p.Val2432SerfsTer10
NM_017780.4:c.7297del MANE Select NP_060250.2:p.Val2433SerfsTer10
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