Canonical Allele Identifier: CA336601
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 216116
ClinVar RCV Id: RCV000196644
dbSNP Id: rs863224518
MyVariant Identifiers: chr8:g.61743036del (hg19) chr8:g.60830477del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60830477del , CM000670.2:g.60830477del GRCh38
NC_000008.10:g.61743036del , CM000670.1:g.61743036del GRCh37
NC_000008.9:g.61905590del NCBI36
NG_007009.1:g.156698del , LRG_176:g.156698del

Transcript Alleles

HGVS Amino-acid change
ENST00000695853.1:c.3678del ENSP00000512218.1:p.Phe1226LeufsTer17
ENST00000423902.7:c.3678del MANE Select ENSP00000392028.1:p.Phe1226LeufsTer17
ENST00000423902.6:c.3678del ENSP00000392028.1:p.Phe1226LeufsTer17
ENST00000524602.5:c.1717-31752del ENSP00000437061.1:n.1717-31752del
NM_001316690.1:c.1717-31752del NP_001303619.1:n.1717-31752del
NM_017780.3:c.3678del NP_060250.2:p.Phe1226LeufsTer17
XM_011517553.1:c.3678del XP_011515855.1:p.Phe1226LeufsTer17
XM_011517554.1:c.3678del XP_011515856.1:p.Phe1226LeufsTer17
XM_011517555.1:c.3678del XP_011515857.1:p.Phe1226LeufsTer17
XM_011517556.1:c.3678del XP_011515858.1:p.Phe1226LeufsTer17
XM_011517557.1:c.1665del XP_011515859.1:p.Phe555LeufsTer17
XM_011517558.1:c.1215del XP_011515860.1:p.Phe405LeufsTer17
XM_011517559.1:c.423del XP_011515861.1:p.Phe141LeufsTer17
XM_011517560.1:c.3678del XP_011515862.1:p.Phe1226LeufsTer17
XM_011517553.2:c.3678del XP_011515855.1:p.Phe1226LeufsTer17
XM_011517554.3:c.3678del XP_011515856.1:p.Phe1226LeufsTer17
XM_011517555.2:c.3678del XP_011515857.1:p.Phe1226LeufsTer17
XM_011517560.2:c.3678del XP_011515862.1:p.Phe1226LeufsTer17
XM_017013612.1:c.3678del XP_016869101.1:p.Phe1226LeufsTer17
XM_017013613.1:c.3678del XP_016869102.1:p.Phe1226LeufsTer17
NM_017780.4:c.3678del MANE Select NP_060250.2:p.Phe1226LeufsTer17
Search 100 bp 5'
Search 100 bp 3'