Canonical Allele Identifier: CA4760341
Gene: CHD7 HGNC NCBI

Linked Data

dbSNP Id: rs764082970
gnomAD v2: 8-61761642-A-T
gnomAD v4: 8-60849083-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60849083A>T , CM000670.2:g.60849083A>T GRCh38
NC_000008.10:g.61761642A>T , CM000670.1:g.61761642A>T GRCh37
NC_000008.9:g.61924196A>T NCBI36
NG_007009.1:g.175304A>T , LRG_176:g.175304A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695853.1:c.5333A>T ENSP00000512218.1:p.His1778Leu
ENST00000423902.7:c.5333A>T MANE Select ENSP00000392028.1:p.His1778Leu
ENST00000423902.6:c.5333A>T ENSP00000392028.1:p.His1778Leu
ENST00000524602.5:c.1717-13146A>T ENSP00000437061.1:n.1717-13146A>T
NM_001316690.1:c.1717-13146A>T NP_001303619.1:n.1717-13146A>T
NM_017780.3:c.5333A>T NP_060250.2:p.His1778Leu
XM_011517553.1:c.5423A>T XP_011515855.1:p.His1808Leu
XM_011517554.1:c.5423A>T XP_011515856.1:p.His1808Leu
XM_011517555.1:c.5423A>T XP_011515857.1:p.His1808Leu
XM_011517556.1:c.5423A>T XP_011515858.1:p.His1808Leu
XM_011517557.1:c.3410A>T XP_011515859.1:p.His1137Leu
XM_011517558.1:c.2960A>T XP_011515860.1:p.His987Leu
XM_011517559.1:c.2168A>T XP_011515861.1:p.His723Leu
XM_011517553.2:c.5423A>T XP_011515855.1:p.His1808Leu
XM_011517554.3:c.5423A>T XP_011515856.1:p.His1808Leu
XM_011517555.2:c.5423A>T XP_011515857.1:p.His1808Leu
XM_017013612.1:c.5423A>T XP_016869101.1:p.His1808Leu
XM_017013613.1:c.5333A>T XP_016869102.1:p.His1778Leu
NM_017780.4:c.5333A>T MANE Select NP_060250.2:p.His1778Leu