Canonical Allele Identifier: CA4759881
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 654752
dbSNP Id: rs750785243
gnomAD v2: 8-61735151-A-G
gnomAD v3: 8-60822592-A-G
gnomAD v4: 8-60822592-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60822592A>G , CM000670.2:g.60822592A>G GRCh38
NC_000008.10:g.61735151A>G , CM000670.1:g.61735151A>G GRCh37
NC_000008.9:g.61897705A>G NCBI36
NG_007009.1:g.148813A>G , LRG_176:g.148813A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695853.1:c.3047A>G ENSP00000512218.1:p.His1016Arg
ENST00000423902.7:c.3047A>G MANE Select ENSP00000392028.1:p.His1016Arg
ENST00000423902.6:c.3047A>G ENSP00000392028.1:p.His1016Arg
ENST00000524602.5:c.1717-39637A>G ENSP00000437061.1:n.1717-39637A>G
ENST00000525508.1:c.3047A>G ENSP00000436027.1:p.His1016Arg
NM_001316690.1:c.1717-39637A>G NP_001303619.1:n.1717-39637A>G
NM_017780.3:c.3047A>G NP_060250.2:p.His1016Arg
XM_011517553.1:c.3047A>G XP_011515855.1:p.His1016Arg
XM_011517554.1:c.3047A>G XP_011515856.1:p.His1016Arg
XM_011517555.1:c.3047A>G XP_011515857.1:p.His1016Arg
XM_011517556.1:c.3047A>G XP_011515858.1:p.His1016Arg
XM_011517557.1:c.1034A>G XP_011515859.1:p.His345Arg
XM_011517558.1:c.584A>G XP_011515860.1:p.His195Arg
XM_011517560.1:c.3047A>G XP_011515862.1:p.His1016Arg
XM_011517553.2:c.3047A>G XP_011515855.1:p.His1016Arg
XM_011517554.3:c.3047A>G XP_011515856.1:p.His1016Arg
XM_011517555.2:c.3047A>G XP_011515857.1:p.His1016Arg
XM_011517560.2:c.3047A>G XP_011515862.1:p.His1016Arg
XM_017013612.1:c.3047A>G XP_016869101.1:p.His1016Arg
XM_017013613.1:c.3047A>G XP_016869102.1:p.His1016Arg
NM_017780.4:c.3047A>G MANE Select NP_060250.2:p.His1016Arg