Canonical Allele Identifier: CA4760968
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 363481
dbSNP Id: rs761409446
gnomAD v2: 8-61777711-C-T
gnomAD v3: 8-60865152-C-T
gnomAD v4: 8-60865152-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60865152C>T , CM000670.2:g.60865152C>T GRCh38
NC_000008.10:g.61777711C>T , CM000670.1:g.61777711C>T GRCh37
NC_000008.9:g.61940265C>T NCBI36
NG_007009.1:g.191373C>T , LRG_176:g.191373C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695850.1:n.1389C>T
ENST00000695852.1:n.320C>T
ENST00000695853.1:c.*1272C>T ENSP00000512218.1:n.*1272C>T
ENST00000423902.7:c.8213C>T MANE Select ENSP00000392028.1:p.Thr2738Met
ENST00000423902.6:c.8213C>T ENSP00000392028.1:p.Thr2738Met
ENST00000524602.5:c.2066C>T ENSP00000437061.1:p.Thr689Met
ENST00000528280.1:n.259C>T
NM_001316690.1:c.2066C>T NP_001303619.1:p.Thr689Met
NM_017780.3:c.8213C>T NP_060250.2:p.Thr2738Met
XM_011517553.1:c.8303C>T XP_011515855.1:p.Thr2768Met
XM_011517554.1:c.8303C>T XP_011515856.1:p.Thr2768Met
XM_011517555.1:c.8300C>T XP_011515857.1:p.Thr2767Met
XM_011517556.1:c.8081C>T XP_011515858.1:p.Thr2694Met
XM_011517557.1:c.6290C>T XP_011515859.1:p.Thr2097Met
XM_011517558.1:c.5840C>T XP_011515860.1:p.Thr1947Met
XM_011517559.1:c.5048C>T XP_011515861.1:p.Thr1683Met
XM_011517553.2:c.8303C>T XP_011515855.1:p.Thr2768Met
XM_011517554.3:c.8303C>T XP_011515856.1:p.Thr2768Met
XM_011517555.2:c.8300C>T XP_011515857.1:p.Thr2767Met
XM_017013612.1:c.8303C>T XP_016869101.1:p.Thr2768Met
XM_017013613.1:c.8210C>T XP_016869102.1:p.Thr2737Met
NM_017780.4:c.8213C>T MANE Select NP_060250.2:p.Thr2738Met