Canonical Allele Identifier: CA171773
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 158324
dbSNP Id: rs7836586
gnomAD v2: 8-61655690-G-A
gnomAD v3: 8-60743131-G-A
gnomAD v4: 8-60743131-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.60743131G>A , CM000670.2:g.60743131G>A GRCh38
NC_000008.10:g.61655690G>A , CM000670.1:g.61655690G>A GRCh37
NC_000008.9:g.61818244G>A NCBI36
NG_007009.1:g.69352G>A , LRG_176:g.69352G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000695848.1:n.2178+34G>A
ENST00000695849.1:n.2178+34G>A
ENST00000695853.1:c.1665+34G>A ENSP00000512218.1:n.1665+34G>A
ENST00000700671.1:c.1665+34G>A ENSP00000515139.1:n.1665+34G>A
ENST00000423902.7:c.1665+34G>A MANE Select ENSP00000392028.1:n.1665+34G>A
ENST00000423902.6:c.1665+34G>A ENSP00000392028.1:n.1665+34G>A
ENST00000524602.5:c.1665+34G>A ENSP00000437061.1:n.1665+34G>A
ENST00000525508.1:c.1665+34G>A ENSP00000436027.1:n.1665+34G>A
ENST00000527825.1:c.309+34G>A
ENST00000527900.1:c.66+34G>A ENSP00000433336.1:n.66+34G>A
NM_001316690.1:c.1665+34G>A NP_001303619.1:n.1665+34G>A
NM_017780.3:c.1665+34G>A NP_060250.2:n.1665+34G>A
XM_011517553.1:c.1665+34G>A XP_011515855.1:n.1665+34G>A
XM_011517554.1:c.1665+34G>A XP_011515856.1:n.1665+34G>A
XM_011517555.1:c.1665+34G>A XP_011515857.1:n.1665+34G>A
XM_011517556.1:c.1665+34G>A XP_011515858.1:n.1665+34G>A
XM_011517560.1:c.1665+34G>A XP_011515862.1:n.1665+34G>A
XM_011517553.2:c.1665+34G>A XP_011515855.1:n.1665+34G>A
XM_011517554.3:c.1665+34G>A XP_011515856.1:n.1665+34G>A
XM_011517555.2:c.1665+34G>A XP_011515857.1:n.1665+34G>A
XM_011517560.2:c.1665+34G>A XP_011515862.1:n.1665+34G>A
XM_017013612.1:c.1665+34G>A XP_016869101.1:n.1665+34G>A
XM_017013613.1:c.1665+34G>A XP_016869102.1:n.1665+34G>A
NM_017780.4:c.1665+34G>A MANE Select NP_060250.2:n.1665+34G>A