Canonical Allele Identifier: CA16618666
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 418832
ClinVar RCV Id: RCV000484664
dbSNP Id: rs1064793463
MyVariant Identifiers: chr8:g.61748660del (hg19) chr8:g.60836101del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60836101del , CM000670.2:g.60836101del GRCh38
NC_000008.10:g.61748660del , CM000670.1:g.61748660del GRCh37
NC_000008.9:g.61911214del NCBI36
NG_007009.1:g.162322del , LRG_176:g.162322del

Transcript Alleles

HGVS Amino-acid change
ENST00000695853.1:c.3807del ENSP00000512218.1:p.Phe1269LeufsTer17
ENST00000423902.7:c.3807del MANE Select ENSP00000392028.1:p.Phe1269LeufsTer17
ENST00000423902.6:c.3807del ENSP00000392028.1:p.Phe1269LeufsTer17
ENST00000524602.5:c.1717-26128del ENSP00000437061.1:n.1717-26128del
NM_001316690.1:c.1717-26128del NP_001303619.1:n.1717-26128del
NM_017780.3:c.3807del NP_060250.2:p.Phe1269LeufsTer17
XM_011517553.1:c.3807del XP_011515855.1:p.Phe1269LeufsTer17
XM_011517554.1:c.3807del XP_011515856.1:p.Phe1269LeufsTer17
XM_011517555.1:c.3807del XP_011515857.1:p.Phe1269LeufsTer17
XM_011517556.1:c.3807del XP_011515858.1:p.Phe1269LeufsTer17
XM_011517557.1:c.1794del XP_011515859.1:p.Phe598LeufsTer17
XM_011517558.1:c.1344del XP_011515860.1:p.Phe448LeufsTer17
XM_011517559.1:c.552del XP_011515861.1:p.Phe184LeufsTer17
XM_011517560.1:c.3807del XP_011515862.1:p.Phe1269LeufsTer17
XM_011517553.2:c.3807del XP_011515855.1:p.Phe1269LeufsTer17
XM_011517554.3:c.3807del XP_011515856.1:p.Phe1269LeufsTer17
XM_011517555.2:c.3807del XP_011515857.1:p.Phe1269LeufsTer17
XM_011517560.2:c.3807del XP_011515862.1:p.Phe1269LeufsTer17
XM_017013612.1:c.3807del XP_016869101.1:p.Phe1269LeufsTer17
XM_017013613.1:c.3807del XP_016869102.1:p.Phe1269LeufsTer17
NM_017780.4:c.3807del MANE Select NP_060250.2:p.Phe1269LeufsTer17
Search 100 bp 5'
Search 100 bp 3'