Canonical Allele Identifier: CA371304559
Gene: CHD7 HGNC NCBI

Linked Data

dbSNP Id: rs1805945184
gnomAD v3: 8-60861021-G-A
gnomAD v4: 8-60861021-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60861021G>A , CM000670.2:g.60861021G>A GRCh38
NC_000008.10:g.61773580G>A , CM000670.1:g.61773580G>A GRCh37
NC_000008.9:g.61936134G>A NCBI36
NG_007009.1:g.187242G>A , LRG_176:g.187242G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695850.1:n.902G>A
ENST00000695851.1:n.106G>A
ENST00000695853.1:c.*785G>A ENSP00000512218.1:n.*785G>A
ENST00000423902.7:c.7726G>A MANE Select ENSP00000392028.1:p.Asp2576Asn
ENST00000423902.6:c.7726G>A ENSP00000392028.1:p.Asp2576Asn
ENST00000524602.5:c.1717-1208G>A ENSP00000437061.1:n.1717-1208G>A
ENST00000531695.1:n.150G>A
ENST00000618450.1:n.118G>A
NM_001316690.1:c.1717-1208G>A NP_001303619.1:n.1717-1208G>A
NM_017780.3:c.7726G>A NP_060250.2:p.Asp2576Asn
XM_011517553.1:c.7816G>A XP_011515855.1:p.Asp2606Asn
XM_011517554.1:c.7816G>A XP_011515856.1:p.Asp2606Asn
XM_011517555.1:c.7813G>A XP_011515857.1:p.Asp2605Asn
XM_011517556.1:c.7699-1175G>A XP_011515858.1:n.7699-1175G>A
XM_011517557.1:c.5803G>A XP_011515859.1:p.Asp1935Asn
XM_011517558.1:c.5353G>A XP_011515860.1:p.Asp1785Asn
XM_011517559.1:c.4561G>A XP_011515861.1:p.Asp1521Asn
XM_011517553.2:c.7816G>A XP_011515855.1:p.Asp2606Asn
XM_011517554.3:c.7816G>A XP_011515856.1:p.Asp2606Asn
XM_011517555.2:c.7813G>A XP_011515857.1:p.Asp2605Asn
XM_017013612.1:c.7816G>A XP_016869101.1:p.Asp2606Asn
XM_017013613.1:c.7723G>A XP_016869102.1:p.Asp2575Asn
NM_017780.4:c.7726G>A MANE Select NP_060250.2:p.Asp2576Asn