Canonical Allele Identifier: CA16618649
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 419492
ClinVar RCV Id: RCV000481309
dbSNP Id: rs1064793909
MyVariant Identifiers: chr8:g.61654198del (hg19) chr8:g.60741639del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60741639del , CM000670.2:g.60741639del GRCh38
NC_000008.10:g.61654198del , CM000670.1:g.61654198del GRCh37
NC_000008.9:g.61816752del NCBI36
NG_007009.1:g.67860del , LRG_176:g.67860del

Transcript Alleles

HGVS Amino-acid change
ENST00000695848.1:n.720del
ENST00000695849.1:n.720del
ENST00000695853.1:c.207del ENSP00000512218.1:p.Phe69LeufsTer14
ENST00000700671.1:c.207del ENSP00000515139.1:p.Phe69LeufsTer14
ENST00000423902.7:c.207del MANE Select ENSP00000392028.1:p.Phe69LeufsTer14
ENST00000423902.6:c.207del ENSP00000392028.1:p.Phe69LeufsTer14
ENST00000524602.5:c.207del ENSP00000437061.1:p.Phe69LeufsTer14
ENST00000525508.1:c.207del ENSP00000436027.1:p.Phe69LeufsTer14
NM_001316690.1:c.207del NP_001303619.1:p.Phe69LeufsTer14
NM_017780.3:c.207del NP_060250.2:p.Phe69LeufsTer14
XM_011517553.1:c.207del XP_011515855.1:p.Phe69LeufsTer14
XM_011517554.1:c.207del XP_011515856.1:p.Phe69LeufsTer14
XM_011517555.1:c.207del XP_011515857.1:p.Phe69LeufsTer14
XM_011517556.1:c.207del XP_011515858.1:p.Phe69LeufsTer14
XM_011517560.1:c.207del XP_011515862.1:p.Phe69LeufsTer14
XM_011517553.2:c.207del XP_011515855.1:p.Phe69LeufsTer14
XM_011517554.3:c.207del XP_011515856.1:p.Phe69LeufsTer14
XM_011517555.2:c.207del XP_011515857.1:p.Phe69LeufsTer14
XM_011517560.2:c.207del XP_011515862.1:p.Phe69LeufsTer14
XM_017013612.1:c.207del XP_016869101.1:p.Phe69LeufsTer14
XM_017013613.1:c.207del XP_016869102.1:p.Phe69LeufsTer14
NM_017780.4:c.207del MANE Select NP_060250.2:p.Phe69LeufsTer14
Search 100 bp 5'
Search 100 bp 3'