Canonical Allele Identifier: CA4760858
Gene: CHD7 HGNC NCBI

Linked Data

dbSNP Id: rs746789759
gnomAD v2: 8-61773517-A-G
gnomAD v4: 8-60860958-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60860958A>G , CM000670.2:g.60860958A>G GRCh38
NC_000008.10:g.61773517A>G , CM000670.1:g.61773517A>G GRCh37
NC_000008.9:g.61936071A>G NCBI36
NG_007009.1:g.187179A>G , LRG_176:g.187179A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695850.1:n.839A>G
ENST00000695851.1:n.43A>G
ENST00000695853.1:c.*722A>G ENSP00000512218.1:n.*722A>G
ENST00000423902.7:c.7663A>G MANE Select ENSP00000392028.1:p.Arg2555Gly
ENST00000423902.6:c.7663A>G ENSP00000392028.1:p.Arg2555Gly
ENST00000524602.5:c.1717-1271A>G ENSP00000437061.1:n.1717-1271A>G
ENST00000531695.1:n.87A>G
ENST00000618450.1:n.55A>G
NM_001316690.1:c.1717-1271A>G NP_001303619.1:n.1717-1271A>G
NM_017780.3:c.7663A>G NP_060250.2:p.Arg2555Gly
XM_011517553.1:c.7753A>G XP_011515855.1:p.Arg2585Gly
XM_011517554.1:c.7753A>G XP_011515856.1:p.Arg2585Gly
XM_011517555.1:c.7750A>G XP_011515857.1:p.Arg2584Gly
XM_011517556.1:c.7699-1238A>G XP_011515858.1:n.7699-1238A>G
XM_011517557.1:c.5740A>G XP_011515859.1:p.Arg1914Gly
XM_011517558.1:c.5290A>G XP_011515860.1:p.Arg1764Gly
XM_011517559.1:c.4498A>G XP_011515861.1:p.Arg1500Gly
XM_011517553.2:c.7753A>G XP_011515855.1:p.Arg2585Gly
XM_011517554.3:c.7753A>G XP_011515856.1:p.Arg2585Gly
XM_011517555.2:c.7750A>G XP_011515857.1:p.Arg2584Gly
XM_017013612.1:c.7753A>G XP_016869101.1:p.Arg2585Gly
XM_017013613.1:c.7660A>G XP_016869102.1:p.Arg2554Gly
NM_017780.4:c.7663A>G MANE Select NP_060250.2:p.Arg2555Gly