Canonical Allele Identifier: CA16042743
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 372739
ClinVar RCV Id: RCV000413712
dbSNP Id: rs1057517957
MyVariant Identifiers: chr8:g.61773509dupC (hg19) chr8:g.60860950dupC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60860950dup , CM000670.2:g.60860950dup GRCh38
NC_000008.10:g.61773509dup , CM000670.1:g.61773509dup GRCh37
NC_000008.9:g.61936063dup NCBI36
NG_007009.1:g.187171dup , LRG_176:g.187171dup

Transcript Alleles

HGVS Amino-acid change
ENST00000695850.1:n.831dup
ENST00000695851.1:n.35dup
ENST00000695853.1:c.*714dup ENSP00000512218.1:n.*714dup
ENST00000423902.7:c.7655dup MANE Select ENSP00000392028.1:p.Pro2553ThrfsTer23
ENST00000423902.6:c.7655dup ENSP00000392028.1:p.Pro2553ThrfsTer23
ENST00000524602.5:c.1717-1279dup ENSP00000437061.1:n.1717-1279dup
ENST00000531695.1:n.79dup
ENST00000618450.1:n.47dup
NM_001316690.1:c.1717-1279dup NP_001303619.1:n.1717-1279dup
NM_017780.3:c.7655dup NP_060250.2:p.Pro2553ThrfsTer23
XM_011517553.1:c.7745dup XP_011515855.1:p.Pro2583ThrfsTer23
XM_011517554.1:c.7745dup XP_011515856.1:p.Pro2583ThrfsTer23
XM_011517555.1:c.7742dup XP_011515857.1:p.Pro2582ThrfsTer23
XM_011517556.1:c.7699-1246dup XP_011515858.1:n.7699-1246dup
XM_011517557.1:c.5732dup XP_011515859.1:p.Pro1912ThrfsTer23
XM_011517558.1:c.5282dup XP_011515860.1:p.Pro1762ThrfsTer23
XM_011517559.1:c.4490dup XP_011515861.1:p.Pro1498ThrfsTer23
XM_011517553.2:c.7745dup XP_011515855.1:p.Pro2583ThrfsTer23
XM_011517554.3:c.7745dup XP_011515856.1:p.Pro2583ThrfsTer23
XM_011517555.2:c.7742dup XP_011515857.1:p.Pro2582ThrfsTer23
XM_017013612.1:c.7745dup XP_016869101.1:p.Pro2583ThrfsTer23
XM_017013613.1:c.7652dup XP_016869102.1:p.Pro2552ThrfsTer23
NM_017780.4:c.7655dup MANE Select NP_060250.2:p.Pro2553ThrfsTer23
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